AGK (acylglycerol kinase) - Rat Genome Database

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Gene: AGK (acylglycerol kinase) Homo sapiens
Analyze
Symbol: AGK
Name: acylglycerol kinase
RGD ID: 1352363
HGNC Page HGNC:21869
Description: Enables ATP-dependent diacylglycerol kinase activity and acylglycerol kinase activity. Involved in protein insertion into mitochondrial inner membrane. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of TIM22 mitochondrial import inner membrane insertion complex. Implicated in Sengers syndrome and cataract 38.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acylglycerol kinase, mitochondrial; CATC5; CTRCT38; FLJ10842; hAGK; hsMuLK; MTDPS10; MULK; multi-substrate lipid kinase; multiple substrate lipid kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AGKP1   AGKP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387141,551,410 - 141,655,244 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7141,551,278 - 141,655,244 (+)EnsemblGRCh38hg38GRCh38
GRCh377141,251,210 - 141,355,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367140,897,693 - 141,000,678 (+)NCBINCBI36Build 36hg18NCBI36
Build 347140,708,436 - 140,807,393NCBI
Celera7135,972,707 - 136,075,841 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7135,547,396 - 135,651,593 (+)NCBIHuRef
CHM1_17141,185,395 - 141,288,517 (+)NCBICHM1_1
T2T-CHM13v2.07142,867,231 - 142,971,096 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27140,588,796 - 140,691,918 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15252046   PMID:15489334   PMID:15939762   PMID:16169070   PMID:16269826   PMID:16344560  
PMID:17135245   PMID:18004883   PMID:19167051   PMID:19549252   PMID:20186120   PMID:20877624   PMID:21145461   PMID:21873635   PMID:21875946   PMID:22268729   PMID:22277967   PMID:22284826  
PMID:22415731   PMID:22810586   PMID:22864860   PMID:23085658   PMID:23266196   PMID:23676499   PMID:24244333   PMID:24457600   PMID:24886245   PMID:25071155   PMID:25208612   PMID:25281560  
PMID:25437307   PMID:25474138   PMID:25872568   PMID:25921289   PMID:25960215   PMID:26443540   PMID:26618866   PMID:26638075   PMID:26662108   PMID:26752685   PMID:26972000   PMID:27025967  
PMID:27499296   PMID:27574811   PMID:28514442   PMID:28685749   PMID:28712724   PMID:28712726   PMID:29053956   PMID:29117863   PMID:29507755   PMID:29517884   PMID:30196744   PMID:30274258  
PMID:30619736   PMID:30657560   PMID:30940648   PMID:30948266   PMID:31091453   PMID:31182584   PMID:31586073   PMID:31732153   PMID:31900208   PMID:31980649   PMID:32202634   PMID:32203420  
PMID:32457219   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32827244   PMID:32877691   PMID:32901109   PMID:32929329   PMID:33022573   PMID:33060197   PMID:33125709   PMID:33187986  
PMID:33239621   PMID:33417871   PMID:33567341   PMID:33729478   PMID:33742100   PMID:33766124   PMID:33853758   PMID:33961781   PMID:34079125   PMID:34116927   PMID:34159380   PMID:34197737  
PMID:34316702   PMID:34559978   PMID:34709727   PMID:34800366   PMID:34969747   PMID:35013218   PMID:35032548   PMID:35140242   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35509820  
PMID:35635053   PMID:35819319   PMID:35850772   PMID:35915203   PMID:35934718   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36526897   PMID:36604567  
PMID:36898370   PMID:37009826   PMID:37267103   PMID:37314216   PMID:37317656   PMID:37354892   PMID:37616343   PMID:37788672   PMID:37820061   PMID:38113892   PMID:38569033   PMID:38697112  
PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
AGK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387141,551,410 - 141,655,244 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7141,551,278 - 141,655,244 (+)EnsemblGRCh38hg38GRCh38
GRCh377141,251,210 - 141,355,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367140,897,693 - 141,000,678 (+)NCBINCBI36Build 36hg18NCBI36
Build 347140,708,436 - 140,807,393NCBI
Celera7135,972,707 - 136,075,841 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7135,547,396 - 135,651,593 (+)NCBIHuRef
CHM1_17141,185,395 - 141,288,517 (+)NCBICHM1_1
T2T-CHM13v2.07142,867,231 - 142,971,096 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27140,588,796 - 140,691,918 (+)NCBI
Agk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39640,302,010 - 40,378,723 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl640,302,106 - 40,373,696 (+)EnsemblGRCm39 Ensembl
GRCm38640,325,076 - 40,397,570 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl640,325,172 - 40,396,762 (+)EnsemblGRCm38mm10GRCm38
MGSCv37640,275,477 - 40,346,761 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36640,255,102 - 40,326,369 (+)NCBIMGSCv36mm8
Celera640,312,815 - 40,384,101 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map618.82NCBI
Agk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8470,081,550 - 70,160,642 (+)NCBIGRCr8
mRatBN7.2469,114,850 - 69,193,989 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl469,114,269 - 69,193,934 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx474,043,235 - 74,122,247 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0469,964,359 - 70,043,387 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0468,375,826 - 68,454,859 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0468,483,345 - 68,561,518 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl468,483,320 - 68,560,801 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04133,268,765 - 133,346,852 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4467,879,971 - 67,953,901 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera464,117,809 - 64,197,005 (+)NCBICelera
Cytogenetic Map4q23NCBI
Agk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554941,924,026 - 2,021,778 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554941,924,026 - 2,041,914 (-)NCBIChiLan1.0ChiLan1.0
AGK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26178,335,028 - 178,437,621 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1730,305,896 - 30,448,003 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07133,438,436 - 133,580,423 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17145,909,004 - 146,050,512 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7145,948,154 - 146,050,512 (+)Ensemblpanpan1.1panPan2
AGK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1167,561,084 - 7,637,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl167,561,305 - 7,637,015 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha168,399,526 - 8,481,863 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0167,477,653 - 7,558,396 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl167,480,649 - 7,558,315 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1167,430,884 - 7,511,475 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0167,273,226 - 7,353,908 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0167,341,468 - 7,422,416 (-)NCBIUU_Cfam_GSD_1.0
Agk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511813,689,358 - 13,766,517 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365925,457,582 - 5,531,000 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365925,454,860 - 5,531,285 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl188,263,896 - 8,368,972 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1188,263,761 - 8,369,060 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2188,555,273 - 8,579,653 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121110,302,439 - 110,404,733 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21110,337,966 - 110,403,436 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660726,981,319 - 7,083,033 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476521,572,714 - 21,668,516 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476521,572,797 - 21,666,424 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGK
348 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018238.4(AGK):c.141+2T>C single nucleotide variant Sengers syndrome [RCV000023808] Chr7:141593187 [GRCh38]
Chr7:141292987 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter) single nucleotide variant Sengers syndrome [RCV000023809] Chr7:141652825 [GRCh38]
Chr7:141352625 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.975+1G>T single nucleotide variant Sengers syndrome [RCV000023810] Chr7:141641909 [GRCh38]
Chr7:141341709 [GRCh37]
Chr7:7q34		 pathogenic
AGK, MET1ILE variation Cataract and cardiomyopathy [RCV000023811] Chr7:7q34 pathogenic
NM_018238.4(AGK):c.517C>T (p.Gln173Ter) single nucleotide variant Sengers syndrome [RCV000023812] Chr7:141615564 [GRCh38]
Chr7:141315364 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.306T>G (p.Tyr102Ter) single nucleotide variant Sengers syndrome [RCV000023813] Chr7:141611203 [GRCh38]
Chr7:141311003 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.841C>T (p.Arg281Ter) single nucleotide variant Sengers syndrome [RCV000023814]|Sengers syndrome [RCV005222702]|not provided [RCV000280769] Chr7:141641362 [GRCh38]
Chr7:141341162 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.672C>G (p.Tyr224Ter) single nucleotide variant Sengers syndrome [RCV000023815] Chr7:141636963 [GRCh38]
Chr7:141336763 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.1131+5G>A single nucleotide variant Sengers syndrome [RCV000023816] Chr7:141651614 [GRCh38]
Chr7:141351414 [GRCh37]
Chr7:7q34		 pathogenic
AGK, 424-3C-G single nucleotide variant Cataract, autosomal recessive congenital 5 [RCV000024610] Chr7:7q34 pathogenic
NM_018238.4(AGK):c.621C>T (p.Thr207=) single nucleotide variant AGK-related disorder [RCV004530811]|Sengers syndrome [RCV002528567]|not specified [RCV000602661] Chr7:141633933 [GRCh38]
Chr7:141333733 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_018238.4(AGK):c.101+5C>T single nucleotide variant AGK-related disorder [RCV004530064]|Sengers syndrome [RCV000553826]|not provided [RCV003456366]|not specified [RCV000123562] Chr7:141555572 [GRCh38]
Chr7:141255372 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.423+182G>A single nucleotide variant not provided [RCV001544553] Chr7:141614360 [GRCh38]
Chr7:141314160 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.3(AGK):c.101+8467C>T single nucleotide variant Lung cancer [RCV000105685] Chr7:141564034 [GRCh38]
Chr7:141263834 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.877+14C>T single nucleotide variant Cataract 38 [RCV000334226]|Sengers syndrome [RCV000294521]|Sengers syndrome [RCV002055397]|not specified [RCV000123563] Chr7:141641412 [GRCh38]
Chr7:141341212 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
NM_018238.4(AGK):c.424-3C>G single nucleotide variant Autosomal recessive AGK-related phenotype [RCV000984913]|Cataract 38 [RCV000024610]|Inborn genetic diseases [RCV000623562]|Sengers syndrome [RCV000191058] Chr7:141615468 [GRCh38]
Chr7:141315268 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) single nucleotide variant Sengers syndrome [RCV000191059]|Sengers syndrome [RCV001852539]|Trichohepatoenteric syndrome 1 [RCV000679854]|not provided [RCV000397878] Chr7:141614164 [GRCh38]
Chr7:141313964 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.108C>A (p.Asn36Lys) single nucleotide variant Inborn genetic diseases [RCV004975323]|not provided [RCV000200440] Chr7:141593152 [GRCh38]
Chr7:141292952 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) single nucleotide variant Cataract 38 [RCV001161192]|Inborn genetic diseases [RCV002515378]|Sengers syndrome [RCV000643997]|Sengers syndrome [RCV001161193]|not provided [RCV000677078] Chr7:141641324 [GRCh38]
Chr7:141341124 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) single nucleotide variant Sengers syndrome [RCV003765256]|not provided [RCV002247623] Chr7:141641814 [GRCh38]
Chr7:141341614 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.3G>C (p.Met1Ile) single nucleotide variant Sengers syndrome [RCV000023811]|not provided [RCV000200556] Chr7:141555469 [GRCh38]
Chr7:141255269 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) single nucleotide variant AGK-related disorder [RCV004541261]|Inborn genetic diseases [RCV004020387]|Sengers syndrome [RCV002054319]|not provided [RCV000196977] Chr7:141555495 [GRCh38]
Chr7:141255295 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) single nucleotide variant Cataract 38 [RCV000288340]|Sengers syndrome [RCV000345703]|Sengers syndrome [RCV001088845]|not provided [RCV000200719] Chr7:141651566 [GRCh38]
Chr7:141351366 [GRCh37]
Chr7:7q34		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018238.4(AGK):c.1052G>C (p.Arg351Pro) single nucleotide variant not specified [RCV000197469] Chr7:141651530 [GRCh38]
Chr7:141351330 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.518+18G>A single nucleotide variant Sengers syndrome [RCV002054317]|not specified [RCV000197587] Chr7:141615583 [GRCh38]
Chr7:141315383 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.851C>T (p.Ala284Val) single nucleotide variant not specified [RCV000198428] Chr7:141641372 [GRCh38]
Chr7:141341172 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1048A>G (p.Ser350Gly) single nucleotide variant not provided [RCV000198534] Chr7:141651526 [GRCh38]
Chr7:141351326 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.3(AGK):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000198714] Chr7:141555469 [GRCh38]
Chr7:141255269 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.3(AGK):c.556G>A (p.Glu186Lys) single nucleotide variant not provided [RCV000198825] Chr7:141621769 [GRCh38]
Chr7:141321569 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.3(AGK):c.424-10dupC duplication not specified [RCV000195749] Chr7:141615461 [GRCh38]
Chr7:141315261 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.863C>T (p.Ala288Val) single nucleotide variant Cataract 38 [RCV000315670]|Sengers syndrome [RCV000372624]|not specified [RCV000199594] Chr7:141641384 [GRCh38]
Chr7:141341184 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.186G>T (p.Lys62Asn) single nucleotide variant Inborn genetic diseases [RCV002517194]|not provided [RCV000196150] Chr7:141596606 [GRCh38]
Chr7:141296406 [GRCh37]
Chr7:7q34		 likely pathogenic|likely benign|uncertain significance
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) single nucleotide variant AGK-related disorder [RCV004732777]|Cataract 38 [RCV001161085]|Sengers syndrome [RCV000532114]|Sengers syndrome [RCV001161084]|not provided [RCV001705123] Chr7:141555483 [GRCh38]
Chr7:141255283 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.727-9C>T single nucleotide variant AGK-related disorder [RCV004530165]|Cataract 38 [RCV001159788]|Sengers syndrome [RCV001159787]|Sengers syndrome [RCV002054318]|not specified [RCV000200160] Chr7:141641239 [GRCh38]
Chr7:141341039 [GRCh37]
Chr7:7q34		 pathogenic|benign|likely benign|uncertain significance
NM_018238.4(AGK):c.416C>G (p.Thr139Arg) single nucleotide variant AGK-related disorder [RCV004541706]|Sengers syndrome [RCV000546855]|not provided [RCV001551157] Chr7:141614171 [GRCh38]
Chr7:141313971 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.298-2A>G single nucleotide variant Sengers syndrome [RCV000578375] Chr7:141611193 [GRCh38]
Chr7:141310993 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.424-11T>C single nucleotide variant Cataract 38 [RCV000278387]|Sengers syndrome [RCV000335835]|Sengers syndrome [RCV002058655]|not provided [RCV001712541] Chr7:141615460 [GRCh38]
Chr7:141315260 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_018238.3(AGK):c.-75G>C single nucleotide variant Developmental cataract [RCV000376499]|Sengers syndrome [RCV000284427] Chr7:141551374 [GRCh38]
Chr7:141251174 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*933C>T single nucleotide variant Cataract 38 [RCV000337151]|Sengers syndrome [RCV000284346]|not provided [RCV004696006] Chr7:141653857 [GRCh38]
Chr7:141353657 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) single nucleotide variant Cataract 38 [RCV000391705]|Inborn genetic diseases [RCV004022039]|Sengers syndrome [RCV000346991]|Sengers syndrome [RCV002524523] Chr7:141651530 [GRCh38]
Chr7:141351330 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.743A>C (p.His248Pro) single nucleotide variant Cataract 38 [RCV000304710]|Inborn genetic diseases [RCV002519501]|Sengers syndrome [RCV000361886]|Sengers syndrome [RCV002523585]|not provided [RCV004591132] Chr7:141641264 [GRCh38]
Chr7:141341064 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1210A>T single nucleotide variant Cataract 38 [RCV000379203]|Sengers syndrome [RCV000326805] Chr7:141654134 [GRCh38]
Chr7:141353934 [GRCh37]
Chr7:7q34		 benign|uncertain significance
NM_018238.4(AGK):c.*320G>A single nucleotide variant Cataract 38 [RCV000383361]|Sengers syndrome [RCV000331130]|not provided [RCV001551166] Chr7:141653244 [GRCh38]
Chr7:141353044 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.424-5C>T single nucleotide variant AGK-related disorder [RCV004544685]|Cataract 38 [RCV000292795]|Sengers syndrome [RCV000392348]|Sengers syndrome [RCV001079011]|not provided [RCV000677077] Chr7:141615466 [GRCh38]
Chr7:141315266 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_018238.4(AGK):c.*1301C>T single nucleotide variant Cataract 38 [RCV000374988]|Sengers syndrome [RCV000334426] Chr7:141654225 [GRCh38]
Chr7:141354025 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.804C>T (p.Thr268=) single nucleotide variant Cataract 38 [RCV000262856]|Sengers syndrome [RCV000356171]|Sengers syndrome [RCV000877812]|not provided [RCV001718773] Chr7:141641325 [GRCh38]
Chr7:141341125 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_018238.4(AGK):c.*1319G>A single nucleotide variant Cataract 38 [RCV000314312]|Sengers syndrome [RCV000390853] Chr7:141654243 [GRCh38]
Chr7:141354043 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.424-2A>G single nucleotide variant AGK-related disorder [RCV000310539] Chr7:141615469 [GRCh38]
Chr7:141315269 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1237G>A single nucleotide variant Cataract 38 [RCV000279424]|Sengers syndrome [RCV000378145] Chr7:141654161 [GRCh38]
Chr7:141353961 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.-36G>A single nucleotide variant Cataract 38 [RCV000318236]|Sengers syndrome [RCV000375156] Chr7:141551413 [GRCh38]
Chr7:141251213 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1308_*1311del deletion Developmental cataract [RCV000349405]|Sengers syndrome [RCV000280487] Chr7:141654229..141654232 [GRCh38]
Chr7:141354029..141354032 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*265G>A single nucleotide variant Cataract 38 [RCV000259939]|Sengers syndrome [RCV000317638] Chr7:141653189 [GRCh38]
Chr7:141352989 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.3(AGK):c.-139G>A single nucleotide variant Developmental cataract [RCV000364867]|Sengers syndrome [RCV000272251] Chr7:141551310 [GRCh38]
Chr7:141251110 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.102-1G>T single nucleotide variant not provided [RCV000303091] Chr7:141593145 [GRCh38]
Chr7:141292945 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.*354CTT[1] microsatellite Developmental cataract [RCV000272328]|Sengers syndrome [RCV000325006] Chr7:141653277..141653279 [GRCh38]
Chr7:141353077..141353079 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1127C>A single nucleotide variant Cataract 38 [RCV000275203]|Sengers syndrome [RCV000309163] Chr7:141654051 [GRCh38]
Chr7:141353851 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) single nucleotide variant Cataract 38 [RCV000322359]|Sengers syndrome [RCV000264853] Chr7:141641284 [GRCh38]
Chr7:141341084 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.3(AGK):c.-88G>C single nucleotide variant Developmental cataract [RCV000266812]|Sengers syndrome [RCV000324289] Chr7:141551361 [GRCh38]
Chr7:141251161 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1233_*1236del deletion Developmental cataract [RCV000268303]|Sengers syndrome [RCV000321107] Chr7:141654156..141654159 [GRCh38]
Chr7:141353956..141353959 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1131+2T>C single nucleotide variant Sengers syndrome [RCV001268953]|Sengers syndrome [RCV005213511] Chr7:141651611 [GRCh38]
Chr7:141351411 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_018238.4(AGK):c.*1331_*1334del deletion Developmental cataract [RCV000402583]|Sengers syndrome [RCV000345767] Chr7:141654252..141654255 [GRCh38]
Chr7:141354052..141354055 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) single nucleotide variant Cataract 38 [RCV000362942]|Sengers syndrome [RCV000402691] Chr7:141633949 [GRCh38]
Chr7:141333749 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*967T>C single nucleotide variant Cataract 38 [RCV000407826]|Sengers syndrome [RCV000297150] Chr7:141653891 [GRCh38]
Chr7:141353691 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*82_*83del deletion Developmental cataract [RCV000404456]|Sengers syndrome [RCV000358172] Chr7:141653005..141653006 [GRCh38]
Chr7:141352805..141352806 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*463_*466dup duplication Developmental cataract [RCV000376564]|Sengers syndrome [RCV000342436] Chr7:141653385..141653386 [GRCh38]
Chr7:141353185..141353186 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_018238.4(AGK):c.223A>G (p.Lys75Glu) single nucleotide variant AGK-related disorder [RCV000626278] Chr7:141601206 [GRCh38]
Chr7:141301006 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) single nucleotide variant Sengers syndrome [RCV002521657]|not provided [RCV000431262] Chr7:141636962 [GRCh38]
Chr7:141336762 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.33C>A (p.His11Gln) single nucleotide variant not provided [RCV000434498] Chr7:141555499 [GRCh38]
Chr7:141255299 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) single nucleotide variant Sengers syndrome [RCV002524878]|not provided [RCV004791454]|not specified [RCV000438039] Chr7:141641813 [GRCh38]
Chr7:141341613 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.877+15G>A single nucleotide variant Cataract 38 [RCV001162743]|Sengers syndrome [RCV001162744]|Sengers syndrome [RCV002519520]|not specified [RCV000420947] Chr7:141641413 [GRCh38]
Chr7:141341213 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_018238.4(AGK):c.-14-3T>C single nucleotide variant Cataract 38 [RCV001161082]|Sengers syndrome [RCV001161083]|not provided [RCV001703797] Chr7:141555450 [GRCh38]
Chr7:141255250 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.976-20A>G single nucleotide variant Sengers syndrome [RCV002525407]|not specified [RCV000439407] Chr7:141649243 [GRCh38]
Chr7:141349043 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.589-18A>G single nucleotide variant not specified [RCV000419570] Chr7:141633883 [GRCh38]
Chr7:141333683 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.519-5T>C single nucleotide variant Sengers syndrome [RCV003766443]|not provided [RCV000422562] Chr7:141621727 [GRCh38]
Chr7:141321527 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.498C>T (p.Ala166=) single nucleotide variant Sengers syndrome [RCV003766226]|not provided [RCV000436767] Chr7:141615545 [GRCh38]
Chr7:141315345 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.297+18A>G single nucleotide variant Sengers syndrome [RCV002058878]|not specified [RCV000423146] Chr7:141601298 [GRCh38]
Chr7:141301098 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.1131+11A>G single nucleotide variant Cataract 38 [RCV001159896]|Sengers syndrome [RCV001159897]|Sengers syndrome [RCV003105895]|not specified [RCV000433866] Chr7:141651620 [GRCh38]
Chr7:141351420 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) single nucleotide variant Inborn genetic diseases [RCV002522512]|Sengers syndrome [RCV002525440]|not provided [RCV000433891] Chr7:141611228 [GRCh38]
Chr7:141311028 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_018238.4(AGK):c.424-3dup duplication Sengers syndrome [RCV002063732]|not provided [RCV001755723] Chr7:141615460..141615461 [GRCh38]
Chr7:141315260..141315261 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_018238.4(AGK):c.297+2T>C single nucleotide variant AGK-related disorder [RCV004541541]|Sengers syndrome [RCV002527087]|not provided [RCV000493610] Chr7:141601282 [GRCh38]
Chr7:141301082 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.390+1G>A single nucleotide variant Sengers syndrome [RCV000538499]|Sengers syndrome [RCV005208714] Chr7:141611288 [GRCh38]
Chr7:141311088 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.327C>T (p.Leu109=) single nucleotide variant Sengers syndrome [RCV003767613]|not provided [RCV000877491] Chr7:141611224 [GRCh38]
Chr7:141311024 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.-33G>A single nucleotide variant not specified [RCV000609855] Chr7:141551416 [GRCh38]
Chr7:141251216 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.-36dup duplication not specified [RCV000615969] Chr7:141551412..141551413 [GRCh38]
Chr7:141251212..141251213 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.390+1G>T single nucleotide variant Inborn genetic diseases [RCV000622441] Chr7:141611288 [GRCh38]
Chr7:141311088 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) duplication Sengers syndrome [RCV000696618]|not provided [RCV000627658] Chr7:141652792..141652793 [GRCh38]
Chr7:141352592..141352593 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_018238.4(AGK):c.877+179A>C single nucleotide variant not provided [RCV001547381] Chr7:141641577 [GRCh38]
Chr7:141341377 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1132-139dup duplication not provided [RCV001570211] Chr7:141652639..141652640 [GRCh38]
Chr7:141352439..141352440 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.523_524del (p.Ile175fs) microsatellite Sengers syndrome [RCV001095709]|Sengers syndrome [RCV005213456] Chr7:141621734..141621735 [GRCh38]
Chr7:141321534..141321535 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_018238.4(AGK):c.1197G>A (p.Leu399=) single nucleotide variant Sengers syndrome [RCV002540975] Chr7:141652852 [GRCh38]
Chr7:141352652 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.579G>A (p.Leu193=) single nucleotide variant Sengers syndrome [RCV000884323] Chr7:141621792 [GRCh38]
Chr7:141321592 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.243A>G (p.Glu81=) single nucleotide variant Sengers syndrome [RCV002539236] Chr7:141601226 [GRCh38]
Chr7:141301026 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.298-194C>T single nucleotide variant not provided [RCV000832070] Chr7:141611001 [GRCh38]
Chr7:141310801 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.726+187T>C single nucleotide variant not provided [RCV000828856] Chr7:141637204 [GRCh38]
Chr7:141337004 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.976-250T>C single nucleotide variant not provided [RCV000828858] Chr7:141649013 [GRCh38]
Chr7:141348813 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1047-235A>G single nucleotide variant not provided [RCV000828859] Chr7:141651290 [GRCh38]
Chr7:141351090 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.518+35G>T single nucleotide variant not provided [RCV000832986] Chr7:141615600 [GRCh38]
Chr7:141315400 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) single nucleotide variant Sengers syndrome [RCV000985092] Chr7:141555538 [GRCh38]
Chr7:141255338 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_018238.4(AGK):c.588+211A>T single nucleotide variant not provided [RCV000828854] Chr7:141622012 [GRCh38]
Chr7:141321812 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.669-212G>A single nucleotide variant not provided [RCV000828855] Chr7:141636748 [GRCh38]
Chr7:141336548 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.726+157G>A single nucleotide variant not provided [RCV000828533] Chr7:141637174 [GRCh38]
Chr7:141336974 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) deletion Sengers syndrome [RCV000818812] Chr7:141649322..141649327 [GRCh38]
Chr7:141349122..141349127 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) single nucleotide variant Sengers syndrome [RCV001220895] Chr7:141614165 [GRCh38]
Chr7:141313965 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) single nucleotide variant Cataract 38 [RCV001164702]|Sengers syndrome [RCV001164701]|Sengers syndrome [RCV002557407] Chr7:141615558 [GRCh38]
Chr7:141315358 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1046+266G>C single nucleotide variant not provided [RCV001549495] Chr7:141649599 [GRCh38]
Chr7:141349399 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.976-167A>G single nucleotide variant not provided [RCV001570963] Chr7:141649096 [GRCh38]
Chr7:141348896 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.102-181_102-165del deletion not provided [RCV001553146] Chr7:141592965..141592981 [GRCh38]
Chr7:141292765..141292781 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.976-149T>C single nucleotide variant not provided [RCV001717024] Chr7:141649114 [GRCh38]
Chr7:141348914 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.589-266A>C single nucleotide variant not provided [RCV001666844] Chr7:141633635 [GRCh38]
Chr7:141333435 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.142-235_142-232del deletion not provided [RCV001593962] Chr7:141596325..141596328 [GRCh38]
Chr7:141296125..141296128 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.424-5C>G single nucleotide variant Sengers syndrome [RCV002568997]|not provided [RCV001556946] Chr7:141615466 [GRCh38]
Chr7:141315266 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.445A>G (p.Ile149Val) single nucleotide variant Inborn genetic diseases [RCV003298931]|Sengers syndrome [RCV002570737]|not provided [RCV001562569] Chr7:141615492 [GRCh38]
Chr7:141315292 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.101+242A>G single nucleotide variant not provided [RCV001640074] Chr7:141555809 [GRCh38]
Chr7:141255609 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.976-47T>G single nucleotide variant not provided [RCV001574629] Chr7:141649216 [GRCh38]
Chr7:141349016 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.424-5C>A single nucleotide variant Sengers syndrome [RCV001487051] Chr7:141615466 [GRCh38]
Chr7:141315266 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.519-4_519-3del deletion AGK-related disorder [RCV004535998]|Sengers syndrome [RCV001444827]|not provided [RCV000981673] Chr7:141621726..141621727 [GRCh38]
Chr7:141321526..141321527 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.852G>A (p.Ala284=) single nucleotide variant Sengers syndrome [RCV002548313] Chr7:141641373 [GRCh38]
Chr7:141341173 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.*231C>T single nucleotide variant Cataract 38 [RCV001162854]|Sengers syndrome [RCV001161304] Chr7:141653155 [GRCh38]
Chr7:141352955 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*621T>C single nucleotide variant Cataract 38 [RCV001164918]|Sengers syndrome [RCV001164917] Chr7:141653545 [GRCh38]
Chr7:141353345 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*754G>A single nucleotide variant Cataract 38 [RCV001160005]|Sengers syndrome [RCV001164921] Chr7:141653678 [GRCh38]
Chr7:141353478 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1132-40T>G single nucleotide variant not provided [RCV001621074] Chr7:141652747 [GRCh38]
Chr7:141352547 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.519-97TG[6] microsatellite not provided [RCV001592371] Chr7:141621635..141621636 [GRCh38]
Chr7:141321435..141321436 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.141+201C>T single nucleotide variant not provided [RCV001572251] Chr7:141593386 [GRCh38]
Chr7:141293186 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.764C>T (p.Thr255Met) single nucleotide variant Sengers syndrome [RCV001866221]|not provided [RCV001594200] Chr7:141641285 [GRCh38]
Chr7:141341085 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.976-152dup duplication not provided [RCV001641684] Chr7:141649094..141649095 [GRCh38]
Chr7:141348894..141348895 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.297+3A>G single nucleotide variant Cataract 38 [RCV001162639]|Sengers syndrome [RCV001162640]|Sengers syndrome [RCV002559553] Chr7:141601283 [GRCh38]
Chr7:141301083 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) single nucleotide variant Cataract 38 [RCV001162638]|Sengers syndrome [RCV001162637] Chr7:141596637 [GRCh38]
Chr7:141296437 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) single nucleotide variant Sengers syndrome [RCV002471037]|Sengers syndrome [RCV003769020]|not provided [RCV001091497] Chr7:141636963 [GRCh38]
Chr7:141336763 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.*125C>T single nucleotide variant Cataract 38 [RCV001161299]|Sengers syndrome [RCV001159902] Chr7:141653049 [GRCh38]
Chr7:141352849 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.588+307del deletion not provided [RCV001538175] Chr7:141622094 [GRCh38]
Chr7:141321894 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.*241A>G single nucleotide variant Cataract 38 [RCV001162856]|Sengers syndrome [RCV001162855] Chr7:141653165 [GRCh38]
Chr7:141352965 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*364C>G single nucleotide variant Cataract 38 [RCV001162857]|Sengers syndrome [RCV001164916] Chr7:141653288 [GRCh38]
Chr7:141353088 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.101+7A>C single nucleotide variant Sengers syndrome [RCV002568185]|not provided [RCV001531058] Chr7:141555574 [GRCh38]
Chr7:141255374 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.976-152del deletion not provided [RCV001709263] Chr7:141649095 [GRCh38]
Chr7:141348895 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.1132-272G>T single nucleotide variant not provided [RCV001582318] Chr7:141652515 [GRCh38]
Chr7:141352315 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.878-1G>T single nucleotide variant not provided [RCV001785897] Chr7:141641810 [GRCh38]
Chr7:141341610 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.-15+31C>G single nucleotide variant not provided [RCV001799881] Chr7:141551465 [GRCh38]
Chr7:141251265 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.20C>T (p.Thr7Met) single nucleotide variant Inborn genetic diseases [RCV003355527]|not provided [RCV001732937] Chr7:141555486 [GRCh38]
Chr7:141255286 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) single nucleotide variant Sengers syndrome [RCV002025006] Chr7:141651557 [GRCh38]
Chr7:141351357 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.412C>T (p.Arg138Ter) single nucleotide variant Inborn genetic diseases [RCV004616792]|Sengers syndrome [RCV002044696] Chr7:141614167 [GRCh38]
Chr7:141313967 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) single nucleotide variant Inborn genetic diseases [RCV004976166]|Sengers syndrome [RCV002045930] Chr7:141596623 [GRCh38]
Chr7:141296423 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_141255267)_(141301100_?)del deletion Sengers syndrome [RCV001951238] Chr7:141255267..141301100 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.632G>A (p.Trp211Ter) single nucleotide variant Sengers syndrome [RCV001933190] Chr7:141633944 [GRCh38]
Chr7:141333744 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.221+9G>A single nucleotide variant Sengers syndrome [RCV001968219] Chr7:141596650 [GRCh38]
Chr7:141296450 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) single nucleotide variant Sengers syndrome [RCV001891880] Chr7:141615519 [GRCh38]
Chr7:141315319 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.562G>A (p.Val188Ile) single nucleotide variant Sengers syndrome [RCV001910613] Chr7:141621775 [GRCh38]
Chr7:141321575 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) single nucleotide variant Sengers syndrome [RCV001927609] Chr7:141621757 [GRCh38]
Chr7:141321557 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.492C>G (p.Leu164=) single nucleotide variant Sengers syndrome [RCV002097500] Chr7:141615539 [GRCh38]
Chr7:141315339 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.391-13A>G single nucleotide variant Sengers syndrome [RCV002096684] Chr7:141614133 [GRCh38]
Chr7:141313933 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.63G>C (p.Leu21=) single nucleotide variant Sengers syndrome [RCV002217459] Chr7:141555529 [GRCh38]
Chr7:141255329 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.142-11T>C single nucleotide variant Sengers syndrome [RCV002144488] Chr7:141596551 [GRCh38]
Chr7:141296351 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1263C>A (p.Thr421=) single nucleotide variant Sengers syndrome [RCV002184058] Chr7:141652918 [GRCh38]
Chr7:141352718 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.222-20A>G single nucleotide variant Sengers syndrome [RCV003113223] Chr7:141601185 [GRCh38]
Chr7:141300985 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.899C>T (p.Pro300Leu) single nucleotide variant Sengers syndrome [RCV003114086] Chr7:141641832 [GRCh38]
Chr7:141341632 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_018238.4(AGK):c.518+1G>A single nucleotide variant AGK-related disorder [RCV003492749]|Sengers syndrome [RCV002283348] Chr7:141615566 [GRCh38]
Chr7:141315366 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.173C>T (p.Ala58Val) single nucleotide variant Sengers syndrome [RCV002297484] Chr7:141596593 [GRCh38]
Chr7:141296393 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr) single nucleotide variant Sengers syndrome [RCV002726410] Chr7:141652809 [GRCh38]
Chr7:141352609 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_018238.4(AGK):c.25C>A (p.Arg9=) single nucleotide variant not provided [RCV003129438] Chr7:141555491 [GRCh38]
Chr7:141255291 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.668+9T>C single nucleotide variant Sengers syndrome [RCV002967935] Chr7:141633989 [GRCh38]
Chr7:141333789 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu) single nucleotide variant Sengers syndrome [RCV002838614] Chr7:141652788 [GRCh38]
Chr7:141352588 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_018238.4(AGK):c.*1024C>T single nucleotide variant Cataract 38 [RCV000367448]|Sengers syndrome [RCV000314853]|not provided [RCV003430935] Chr7:141653948 [GRCh38]
Chr7:141353748 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.*1175C>T single nucleotide variant Cataract 38 [RCV000269429]|Sengers syndrome [RCV000366226]|not provided [RCV004712358] Chr7:141654099 [GRCh38]
Chr7:141353899 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.3(AGK):c.-100G>A single nucleotide variant Developmental cataract [RCV000324959]|Sengers syndrome [RCV000381866]|not provided [RCV003422352] Chr7:141551349 [GRCh38]
Chr7:141251149 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.1098C>T (p.Leu366=) single nucleotide variant Cataract 38 [RCV000405324]|Sengers syndrome [RCV000305760]|Sengers syndrome [RCV005208608] Chr7:141651576 [GRCh38]
Chr7:141351376 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.424-4C>G single nucleotide variant Cataract 38 [RCV000402479]|Sengers syndrome [RCV000350058]|Sengers syndrome [RCV000873969]|not provided [RCV001705525] Chr7:141615467 [GRCh38]
Chr7:141315267 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_018238.3(AGK):c.-162G>A single nucleotide variant Developmental cataract [RCV000312506]|Sengers syndrome [RCV000273712] Chr7:141551287 [GRCh38]
Chr7:141251087 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*319del deletion Developmental cataract [RCV000273641]|Sengers syndrome [RCV000369926] Chr7:141653243 [GRCh38]
Chr7:141353043 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.963G>A (p.Gln321=) single nucleotide variant Cataract 38 [RCV000294426]|Sengers syndrome [RCV000386433]|Sengers syndrome [RCV002524522] Chr7:141641896 [GRCh38]
Chr7:141341696 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.*992G>A single nucleotide variant Cataract 38 [RCV000406571]|Sengers syndrome [RCV000335747] Chr7:141653916 [GRCh38]
Chr7:141353716 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.*141C>T single nucleotide variant Cataract 38 [RCV000357206]|Sengers syndrome [RCV000299825]|not provided [RCV001712542] Chr7:141653065 [GRCh38]
Chr7:141352865 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.1047-2A>T single nucleotide variant Sengers syndrome [RCV003765578]|not provided [RCV000279504] Chr7:141651523 [GRCh38]
Chr7:141351323 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_018238.4(AGK):c.*365G>A single nucleotide variant Cataract 38 [RCV000381925]|Sengers syndrome [RCV000285104] Chr7:141653289 [GRCh38]
Chr7:141353089 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q34(chr7:141236833-141290700)x1 copy number loss See cases [RCV000446301] Chr7:141236833..141290700 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.21G>A (p.Thr7=) single nucleotide variant Sengers syndrome [RCV005213277]|not specified [RCV000438555] Chr7:141555487 [GRCh38]
Chr7:141255287 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) deletion Sengers syndrome [RCV000578454] Chr7:141652866..141652892 [GRCh38]
Chr7:141352666..141352692 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.232A>T (p.Thr78Ser) single nucleotide variant Inborn genetic diseases [RCV003283018] Chr7:141601215 [GRCh38]
Chr7:141301015 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) single nucleotide variant Sengers syndrome [RCV000643996] Chr7:141601240 [GRCh38]
Chr7:141301040 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.589-20G>T single nucleotide variant Sengers syndrome [RCV003767575]|not specified [RCV000601925] Chr7:141633881 [GRCh38]
Chr7:141333681 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.684G>A (p.Gly228=) single nucleotide variant Cataract 38 [RCV001159785]|Sengers syndrome [RCV001159786]|Sengers syndrome [RCV002066546]|not provided [RCV001698096] Chr7:141636975 [GRCh38]
Chr7:141336775 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_018238.4(AGK):c.*662A>G single nucleotide variant Cataract 38 [RCV001164919]|Sengers syndrome [RCV001164920] Chr7:141653586 [GRCh38]
Chr7:141353386 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_018238.4(AGK):c.-14-269A>G single nucleotide variant not provided [RCV000828846] Chr7:141555184 [GRCh38]
Chr7:141254984 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.1215dup (p.Phe406fs) duplication Sengers syndrome [RCV000787336] Chr7:141652869..141652870 [GRCh38]
Chr7:141352669..141352670 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.355A>G (p.Ile119Val) single nucleotide variant Cataract 38 [RCV001162642]|Sengers syndrome [RCV001162641] Chr7:141611252 [GRCh38]
Chr7:141311052 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*1126T>A single nucleotide variant Cataract 38 [RCV001161426]|Sengers syndrome [RCV001162960] Chr7:141654050 [GRCh38]
Chr7:141353850 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_018238.4(AGK):c.*1467T>C single nucleotide variant Cataract 38 [RCV001165043]|Sengers syndrome [RCV001165042] Chr7:141654391 [GRCh38]
Chr7:141354191 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.*184C>T single nucleotide variant Cataract 38 [RCV001161300]|Sengers syndrome [RCV001161301]|not provided [RCV001593299] Chr7:141653108 [GRCh38]
Chr7:141352908 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.*197C>T single nucleotide variant Cataract 38 [RCV001161303]|Sengers syndrome [RCV001161302] Chr7:141653121 [GRCh38]
Chr7:141352921 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.101+4_101+7dup duplication Sengers syndrome [RCV003106506] Chr7:141555568..141555569 [GRCh38]
Chr7:141255368..141255369 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.141+267C>T single nucleotide variant not provided [RCV001589790] Chr7:141593452 [GRCh38]
Chr7:141293252 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.391-59C>A single nucleotide variant not provided [RCV001669250] Chr7:141614087 [GRCh38]
Chr7:141313887 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) single nucleotide variant AGK-related disorder [RCV004540251]|Cataract 38 [RCV001161087]|Sengers syndrome [RCV000873228]|Sengers syndrome [RCV001161086] Chr7:141555492 [GRCh38]
Chr7:141255292 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
NM_018238.4(AGK):c.424-4C>A single nucleotide variant AGK-related disorder [RCV004538318]|Sengers syndrome [RCV000872880]|not provided [RCV001547607] Chr7:141615467 [GRCh38]
Chr7:141315267 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) single nucleotide variant Cataract 38 [RCV001164703]|Sengers syndrome [RCV001159784]|Sengers syndrome [RCV002558505] Chr7:141633931 [GRCh38]
Chr7:141333731 [GRCh37]
Chr7:7q34		 benign|uncertain significance
NM_018238.4(AGK):c.976-9C>T single nucleotide variant Cataract 38 [RCV001164815]|Sengers syndrome [RCV001164814]|Sengers syndrome [RCV002559582] Chr7:141649254 [GRCh38]
Chr7:141349054 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.*97G>T single nucleotide variant Cataract 38 [RCV001159900]|Sengers syndrome [RCV001159901] Chr7:141653021 [GRCh38]
Chr7:141352821 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.742C>T (p.His248Tyr) single nucleotide variant Cataract 38 [RCV001159789]|Inborn genetic diseases [RCV002559530]|Sengers syndrome [RCV001161191]|Sengers syndrome [RCV002557364]|not provided [RCV003317436] Chr7:141641263 [GRCh38]
Chr7:141341063 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*758T>C single nucleotide variant Cataract 38 [RCV001160006]|Sengers syndrome [RCV001160007] Chr7:141653682 [GRCh38]
Chr7:141353482 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.348G>A (p.Thr116=) single nucleotide variant not provided [RCV000933599] Chr7:141611245 [GRCh38]
Chr7:141311045 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.976-224dup duplication not provided [RCV001561743] Chr7:141649029..141649030 [GRCh38]
Chr7:141348829..141348830 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.877+2T>G single nucleotide variant Sengers syndrome [RCV000991387] Chr7:141641400 [GRCh38]
Chr7:141341200 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.*1067T>G single nucleotide variant Cataract 38 [RCV001161425]|Sengers syndrome [RCV001161424] Chr7:141653991 [GRCh38]
Chr7:141353791 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.*58G>A single nucleotide variant Cataract 38 [RCV001159899]|Sengers syndrome [RCV001159898] Chr7:141652982 [GRCh38]
Chr7:141352782 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) single nucleotide variant Cataract 38 [RCV001162636]|Inborn genetic diseases [RCV002558530]|Sengers syndrome [RCV001161088]|Sengers syndrome [RCV001859043] Chr7:141555521 [GRCh38]
Chr7:141255321 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.*1006T>C single nucleotide variant Cataract 38 [RCV001161423]|Sengers syndrome [RCV001161422] Chr7:141653930 [GRCh38]
Chr7:141353730 [GRCh37]
Chr7:7q34		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_018238.4(AGK):c.655G>A (p.Val219Ile) single nucleotide variant Sengers syndrome [RCV002570574]|Sengers syndrome [RCV004799266] Chr7:141633967 [GRCh38]
Chr7:141333767 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.390G>A (p.Glu130=) single nucleotide variant Sengers syndrome [RCV001268954] Chr7:141611287 [GRCh38]
Chr7:141311087 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.1035dup (p.Ile346fs) duplication Sengers syndrome [RCV001382409] Chr7:141649319..141649320 [GRCh38]
Chr7:141349119..141349120 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) single nucleotide variant Sengers syndrome [RCV001359647] Chr7:141641326 [GRCh38]
Chr7:141341126 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1039_1042dup (p.Ile348fs) duplication Sengers syndrome [RCV001336431] Chr7:141649323..141649324 [GRCh38]
Chr7:141349123..141349124 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.518+81del deletion not provided [RCV001674054] Chr7:141615646 [GRCh38]
Chr7:141315446 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.298-106G>A single nucleotide variant not provided [RCV001584977] Chr7:141611089 [GRCh38]
Chr7:141310889 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.14:g.141551244C>G single nucleotide variant not provided [RCV001799947] Chr7:141551244 [GRCh38]
Chr7:141251044 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) single nucleotide variant Sengers syndrome [RCV001911780] Chr7:141614156 [GRCh38]
Chr7:141313956 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.878-6C>T single nucleotide variant Sengers syndrome [RCV001916421] Chr7:141641805 [GRCh38]
Chr7:141341605 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.222-13C>T single nucleotide variant Sengers syndrome [RCV002105177] Chr7:141601192 [GRCh38]
Chr7:141300992 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_138391369)_(141759786_?)del deletion RASopathy [RCV003113440]|not provided [RCV003109447] Chr7:138391369..141759786 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NC_000007.13:g.(?_141292926)_(141293005_?)del deletion Sengers syndrome [RCV003119899] Chr7:141292926..141293005 [GRCh37]
Chr7:7q34		 pathogenic
NC_000007.13:g.(?_141255267)_(141352724_?)dup duplication Sengers syndrome [RCV003119900] Chr7:141255267..141352724 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_141292926)_(141293005_?)dup duplication Sengers syndrome [RCV003119901] Chr7:141292926..141293005 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.901G>A (p.Glu301Lys) single nucleotide variant Sengers syndrome [RCV003118840] Chr7:141641834 [GRCh38]
Chr7:141341634 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.871C>T (p.Gln291Ter) single nucleotide variant Sengers syndrome [RCV004797000] Chr7:141641392 [GRCh38]
Chr7:141341192 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.979A>T (p.Lys327Ter) single nucleotide variant not provided [RCV002275771] Chr7:141649266 [GRCh38]
Chr7:141349066 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.339G>A (p.Met113Ile) single nucleotide variant not provided [RCV003149239] Chr7:141611236 [GRCh38]
Chr7:141311036 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.124G>C (p.Ala42Pro) single nucleotide variant not provided [RCV003129339] Chr7:141593168 [GRCh38]
Chr7:141292968 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.622G>A (p.Gly208Ser) single nucleotide variant Inborn genetic diseases [RCV002967985]|Sengers syndrome [RCV002982614]|not provided [RCV004790296] Chr7:141633934 [GRCh38]
Chr7:141333734 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.241G>A (p.Glu81Lys) single nucleotide variant Sengers syndrome [RCV003074039] Chr7:141601224 [GRCh38]
Chr7:141301024 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.971C>T (p.Pro324Leu) single nucleotide variant Inborn genetic diseases [RCV002909009]|Sengers syndrome [RCV002909008] Chr7:141641904 [GRCh38]
Chr7:141341704 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs) duplication Sengers syndrome [RCV002862667] Chr7:141652819..141652820 [GRCh38]
Chr7:141352619..141352620 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.80A>G (p.His27Arg) single nucleotide variant Sengers syndrome [RCV003075930] Chr7:141555546 [GRCh38]
Chr7:141255346 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1077C>T (p.His359=) single nucleotide variant AGK-related disorder [RCV004545337]|Sengers syndrome [RCV002571620]|not provided [RCV002512347] Chr7:141651555 [GRCh38]
Chr7:141351355 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.391-9C>G single nucleotide variant Sengers syndrome [RCV003011834] Chr7:141614137 [GRCh38]
Chr7:141313937 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg) single nucleotide variant Sengers syndrome [RCV002967548] Chr7:141649332 [GRCh38]
Chr7:141349132 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.717C>T (p.Ser239=) single nucleotide variant Sengers syndrome [RCV002636219] Chr7:141637008 [GRCh38]
Chr7:141336808 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.289A>G (p.Ile97Val) single nucleotide variant Sengers syndrome [RCV002903592] Chr7:141601272 [GRCh38]
Chr7:141301072 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.654C>A (p.Gly218=) single nucleotide variant AGK-related disorder [RCV004536562]|Sengers syndrome [RCV003074437] Chr7:141633966 [GRCh38]
Chr7:141333766 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q34(chr7:140781683-141286483)x3 copy number gain not provided [RCV002475829] Chr7:140781683..141286483 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.424-3del deletion Sengers syndrome [RCV002914112] Chr7:141615461 [GRCh38]
Chr7:141315261 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.142-18T>G single nucleotide variant Sengers syndrome [RCV002640280] Chr7:141596544 [GRCh38]
Chr7:141296344 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu) single nucleotide variant Inborn genetic diseases [RCV003377916]|Sengers syndrome [RCV002638361] Chr7:141651605 [GRCh38]
Chr7:141351405 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.298-18G>C single nucleotide variant Sengers syndrome [RCV002885642] Chr7:141611177 [GRCh38]
Chr7:141310977 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.521A>G (p.His174Arg) single nucleotide variant Inborn genetic diseases [RCV002783062] Chr7:141621734 [GRCh38]
Chr7:141321534 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.669-6del deletion Sengers syndrome [RCV002796757] Chr7:141636951 [GRCh38]
Chr7:141336751 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.142-14C>G single nucleotide variant Sengers syndrome [RCV002637937] Chr7:141596548 [GRCh38]
Chr7:141296348 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.391-6T>C single nucleotide variant Sengers syndrome [RCV003020201] Chr7:141614140 [GRCh38]
Chr7:141313940 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1047-12C>G single nucleotide variant Sengers syndrome [RCV002735880] Chr7:141651513 [GRCh38]
Chr7:141351313 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.972G>A (p.Pro324=) single nucleotide variant Sengers syndrome [RCV003002336] Chr7:141641905 [GRCh38]
Chr7:141341705 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.267T>C (p.His89=) single nucleotide variant Sengers syndrome [RCV002591608] Chr7:141601250 [GRCh38]
Chr7:141301050 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1176G>C (p.Ala392=) single nucleotide variant Sengers syndrome [RCV002848081] Chr7:141652831 [GRCh38]
Chr7:141352631 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.80A>C (p.His27Pro) single nucleotide variant Sengers syndrome [RCV003058859] Chr7:141555546 [GRCh38]
Chr7:141255346 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.222-3C>G single nucleotide variant Sengers syndrome [RCV003026190] Chr7:141601202 [GRCh38]
Chr7:141301002 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.212C>T (p.Ala71Val) single nucleotide variant Sengers syndrome [RCV002710930] Chr7:141596632 [GRCh38]
Chr7:141296432 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.190A>G (p.Thr64Ala) single nucleotide variant Sengers syndrome [RCV002572940] Chr7:141596610 [GRCh38]
Chr7:141296410 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1068C>T (p.Pro356=) single nucleotide variant Sengers syndrome [RCV002872010] Chr7:141651546 [GRCh38]
Chr7:141351346 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.424-3C>A single nucleotide variant Sengers syndrome [RCV002917540] Chr7:141615468 [GRCh38]
Chr7:141315268 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1131+19G>A single nucleotide variant Sengers syndrome [RCV002872796] Chr7:141651628 [GRCh38]
Chr7:141351428 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.654C>T (p.Gly218=) single nucleotide variant Sengers syndrome [RCV002872797] Chr7:141633966 [GRCh38]
Chr7:141333766 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1089G>A (p.Thr363=) single nucleotide variant Sengers syndrome [RCV002914701] Chr7:141651567 [GRCh38]
Chr7:141351367 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.423+19T>C single nucleotide variant Sengers syndrome [RCV003057526] Chr7:141614197 [GRCh38]
Chr7:141313997 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.669-16C>A single nucleotide variant Sengers syndrome [RCV002574608] Chr7:141636944 [GRCh38]
Chr7:141336744 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.860G>A (p.Trp287Ter) single nucleotide variant Sengers syndrome [RCV003059184] Chr7:141641381 [GRCh38]
Chr7:141341181 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.1175C>T (p.Ala392Val) single nucleotide variant Sengers syndrome [RCV002957933] Chr7:141652830 [GRCh38]
Chr7:141352630 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.924G>A (p.Leu308=) single nucleotide variant Sengers syndrome [RCV002828565] Chr7:141641857 [GRCh38]
Chr7:141341657 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer) deletion Sengers syndrome [RCV003091648] Chr7:141652804..141652808 [GRCh38]
Chr7:141352604..141352608 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.1140G>A (p.Gly380=) single nucleotide variant Sengers syndrome [RCV003030900] Chr7:141652795 [GRCh38]
Chr7:141352595 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1132-13C>A single nucleotide variant Sengers syndrome [RCV003092135] Chr7:141652774 [GRCh38]
Chr7:141352574 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.343A>C (p.Asn115His) single nucleotide variant Sengers syndrome [RCV002967201] Chr7:141611240 [GRCh38]
Chr7:141311040 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.615A>G (p.Ala205=) single nucleotide variant Sengers syndrome [RCV002649635] Chr7:141633927 [GRCh38]
Chr7:141333727 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.776A>G (p.Glu259Gly) single nucleotide variant Sengers syndrome [RCV003061698] Chr7:141641297 [GRCh38]
Chr7:141341097 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.424-8C>G single nucleotide variant Sengers syndrome [RCV002716643] Chr7:141615463 [GRCh38]
Chr7:141315263 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.287C>T (p.Thr96Ile) single nucleotide variant Sengers syndrome [RCV002833905] Chr7:141601270 [GRCh38]
Chr7:141301070 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.519-1G>A single nucleotide variant Sengers syndrome [RCV003048475] Chr7:141621731 [GRCh38]
Chr7:141321531 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.26G>C (p.Arg9Pro) single nucleotide variant Sengers syndrome [RCV002597878] Chr7:141555492 [GRCh38]
Chr7:141255292 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.590G>A (p.Gly197Asp) single nucleotide variant Sengers syndrome [RCV002630490] Chr7:141633902 [GRCh38]
Chr7:141333702 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.331G>A (p.Glu111Lys) single nucleotide variant Sengers syndrome [RCV002581656] Chr7:141611228 [GRCh38]
Chr7:141311028 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.670T>C (p.Tyr224His) single nucleotide variant Sengers syndrome [RCV002746488] Chr7:141636961 [GRCh38]
Chr7:141336761 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1078G>A (p.Val360Met) single nucleotide variant Sengers syndrome [RCV002633962] Chr7:141651556 [GRCh38]
Chr7:141351356 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.277A>G (p.Met93Val) single nucleotide variant Inborn genetic diseases [RCV002722672] Chr7:141601260 [GRCh38]
Chr7:141301060 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.726+9G>T single nucleotide variant Sengers syndrome [RCV003066725] Chr7:141637026 [GRCh38]
Chr7:141336826 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.352G>A (p.Val118Met) single nucleotide variant Sengers syndrome [RCV003069327] Chr7:141611249 [GRCh38]
Chr7:141311049 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.298-18G>T single nucleotide variant Sengers syndrome [RCV002604290] Chr7:141611177 [GRCh38]
Chr7:141310977 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.142-4T>C single nucleotide variant Sengers syndrome [RCV003093678] Chr7:141596558 [GRCh38]
Chr7:141296358 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.446T>C (p.Ile149Thr) single nucleotide variant Sengers syndrome [RCV002654646] Chr7:141615493 [GRCh38]
Chr7:141315293 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.424-3C>T single nucleotide variant Sengers syndrome [RCV003092460] Chr7:141615468 [GRCh38]
Chr7:141315268 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1047-7C>T single nucleotide variant Sengers syndrome [RCV002611250] Chr7:141651518 [GRCh38]
Chr7:141351318 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1046+13G>C single nucleotide variant Sengers syndrome [RCV003072113] Chr7:141649346 [GRCh38]
Chr7:141349146 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.611T>C (p.Phe204Ser) single nucleotide variant Inborn genetic diseases [RCV003195323] Chr7:141633923 [GRCh38]
Chr7:141333723 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.142-1664G>A single nucleotide variant not provided [RCV003223270] Chr7:141594898 [GRCh38]
Chr7:141294698 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_018238.4(AGK):c.628C>T (p.Arg210Ter) single nucleotide variant Sengers syndrome [RCV003330156] Chr7:141633940 [GRCh38]
Chr7:141333740 [GRCh37]
Chr7:7q34		 pathogenic
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_018238.4(AGK):c.1114A>G (p.Thr372Ala) single nucleotide variant Inborn genetic diseases [RCV003349472] Chr7:141651592 [GRCh38]
Chr7:141351392 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.701C>T (p.Ala234Val) single nucleotide variant not provided [RCV003489538] Chr7:141636992 [GRCh38]
Chr7:141336792 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.788A>G (p.Asn263Ser) single nucleotide variant Inborn genetic diseases [RCV004366616]|Sengers syndrome [RCV003797016] Chr7:141641309 [GRCh38]
Chr7:141341109 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.878-17C>T single nucleotide variant Sengers syndrome [RCV003807536] Chr7:141641794 [GRCh38]
Chr7:141341594 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1042A>G (p.Ile348Val) single nucleotide variant Inborn genetic diseases [RCV004366553]|Sengers syndrome [RCV003787086] Chr7:141649329 [GRCh38]
Chr7:141349129 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.499G>A (p.Glu167Lys) single nucleotide variant Sengers syndrome [RCV003797015] Chr7:141615546 [GRCh38]
Chr7:141315346 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.877+13G>A single nucleotide variant Sengers syndrome [RCV003783360] Chr7:141641411 [GRCh38]
Chr7:141341211 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.726+18T>G single nucleotide variant Sengers syndrome [RCV003780441] Chr7:141637035 [GRCh38]
Chr7:141336835 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.388G>T (p.Glu130Ter) single nucleotide variant Sengers syndrome [RCV003804110] Chr7:141611285 [GRCh38]
Chr7:141311085 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.542C>A (p.Ala181Asp) single nucleotide variant Sengers syndrome [RCV003785128] Chr7:141621755 [GRCh38]
Chr7:141321555 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.396T>C (p.Val132=) single nucleotide variant Sengers syndrome [RCV003796242] Chr7:141614151 [GRCh38]
Chr7:141313951 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.424-4C>T single nucleotide variant Sengers syndrome [RCV003796632] Chr7:141615467 [GRCh38]
Chr7:141315267 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.42A>G (p.Lys14=) single nucleotide variant Sengers syndrome [RCV003781753] Chr7:141555508 [GRCh38]
Chr7:141255308 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_018238.4(AGK):c.495T>C (p.Phe165=) single nucleotide variant Sengers syndrome [RCV003795072] Chr7:141615542 [GRCh38]
Chr7:141315342 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.877+19A>G single nucleotide variant Sengers syndrome [RCV003796692] Chr7:141641417 [GRCh38]
Chr7:141341217 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.954G>A (p.Arg318=) single nucleotide variant Sengers syndrome [RCV003780158] Chr7:141641887 [GRCh38]
Chr7:141341687 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.221+13G>A single nucleotide variant Sengers syndrome [RCV003786475] Chr7:141596654 [GRCh38]
Chr7:141296454 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1132-10_1132-9del deletion Sengers syndrome [RCV003786542] Chr7:141652777..141652778 [GRCh38]
Chr7:141352577..141352578 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.462G>A (p.Leu154=) single nucleotide variant Sengers syndrome [RCV003797122] Chr7:141615509 [GRCh38]
Chr7:141315309 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.356dup (p.Ile120fs) duplication Sengers syndrome [RCV003779486] Chr7:141611252..141611253 [GRCh38]
Chr7:141311052..141311053 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.819T>C (p.Pro273=) single nucleotide variant Sengers syndrome [RCV003787475] Chr7:141641340 [GRCh38]
Chr7:141341140 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.424-6C>T single nucleotide variant Sengers syndrome [RCV003795359] Chr7:141615465 [GRCh38]
Chr7:141315265 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.142-8T>A single nucleotide variant Sengers syndrome [RCV003780807] Chr7:141596554 [GRCh38]
Chr7:141296354 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.411A>T (p.Arg137=) single nucleotide variant Sengers syndrome [RCV003794120] Chr7:141614166 [GRCh38]
Chr7:141313966 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.101+13C>G single nucleotide variant Sengers syndrome [RCV003798944] Chr7:141555580 [GRCh38]
Chr7:141255380 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.975+16dup duplication Sengers syndrome [RCV003798630] Chr7:141641918..141641919 [GRCh38]
Chr7:141341718..141341719 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.878-15A>T single nucleotide variant Sengers syndrome [RCV003808954] Chr7:141641796 [GRCh38]
Chr7:141341596 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1260C>T (p.Pro420=) single nucleotide variant Sengers syndrome [RCV003801865] Chr7:141652915 [GRCh38]
Chr7:141352715 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.142-10del deletion Sengers syndrome [RCV003801223] Chr7:141596549 [GRCh38]
Chr7:141296349 [GRCh37]
Chr7:7q34		 benign
NM_018238.4(AGK):c.621C>G (p.Thr207=) single nucleotide variant Sengers syndrome [RCV003799366] Chr7:141633933 [GRCh38]
Chr7:141333733 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.409del (p.Arg137fs) deletion Sengers syndrome [RCV003817962] Chr7:141614164 [GRCh38]
Chr7:141313964 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.519-19A>G single nucleotide variant Sengers syndrome [RCV003801465] Chr7:141621713 [GRCh38]
Chr7:141321513 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.969C>T (p.Asp323=) single nucleotide variant AGK-related disorder [RCV004542581] Chr7:141641902 [GRCh38]
Chr7:141341702 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q34(chr7:140426294-141883173)x1 copy number loss not provided [RCV003885518] Chr7:140426294..141883173 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.1110G>A (p.Gln370=) single nucleotide variant AGK-related disorder [RCV004540976] Chr7:141651588 [GRCh38]
Chr7:141351388 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.754A>G (p.Ile252Val) single nucleotide variant Inborn genetic diseases [RCV004389462] Chr7:141641275 [GRCh38]
Chr7:141341075 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.347C>T (p.Thr116Met) single nucleotide variant Inborn genetic diseases [RCV004389449] Chr7:141611244 [GRCh38]
Chr7:141311044 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.844A>G (p.Arg282Gly) single nucleotide variant Inborn genetic diseases [RCV004389466] Chr7:141641365 [GRCh38]
Chr7:141341165 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1189G>A (p.Val397Met) single nucleotide variant Inborn genetic diseases [RCV004389433] Chr7:141652844 [GRCh38]
Chr7:141352644 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.487A>G (p.Thr163Ala) single nucleotide variant Inborn genetic diseases [RCV004389453] Chr7:141615534 [GRCh38]
Chr7:141315334 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.91G>A (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV004389469] Chr7:141555557 [GRCh38]
Chr7:141255357 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.469A>G (p.Thr157Ala) single nucleotide variant Inborn genetic diseases [RCV004389452] Chr7:141615516 [GRCh38]
Chr7:141315316 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.66G>A (p.Leu22=) single nucleotide variant not provided [RCV005003991] Chr7:141555532 [GRCh38]
Chr7:141255332 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1 copy number loss not provided [RCV004819354] Chr7:122190535..149944340 [GRCh37]
Chr7:7q31.32-36.1		 pathogenic
GRCh37/hg19 7q33-36.1(chr7:136304444-148292957)x1 copy number loss not provided [RCV004819355] Chr7:136304444..148292957 [GRCh37]
Chr7:7q33-36.1		 pathogenic
NM_018238.4(AGK):c.357C>T (p.Ile119=) single nucleotide variant Sengers syndrome [RCV005215149] Chr7:141611254 [GRCh38]
Chr7:141311054 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.156A>G (p.Gln52=) single nucleotide variant Sengers syndrome [RCV005228543] Chr7:141596576 [GRCh38]
Chr7:141296376 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1268G>A (p.Ter423=) single nucleotide variant Sengers syndrome [RCV005226726] Chr7:141652923 [GRCh38]
Chr7:141352723 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1194A>G (p.Lys398=) single nucleotide variant Sengers syndrome [RCV005211052] Chr7:141652849 [GRCh38]
Chr7:141352649 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.222-2A>C single nucleotide variant Sengers syndrome [RCV005226647] Chr7:141601203 [GRCh38]
Chr7:141301003 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.358A>G (p.Ile120Val) single nucleotide variant not provided [RCV005065294] Chr7:141611255 [GRCh38]
Chr7:141311055 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.877+20A>C single nucleotide variant Sengers syndrome [RCV005228259] Chr7:141641418 [GRCh38]
Chr7:141341218 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.373G>C (p.Asp125His) single nucleotide variant not provided [RCV005054816] Chr7:141611270 [GRCh38]
Chr7:141311070 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.354G>A (p.Val118=) single nucleotide variant Sengers syndrome [RCV005224681] Chr7:141611251 [GRCh38]
Chr7:141311051 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1113C>A (p.Cys371Ter) single nucleotide variant Sengers syndrome [RCV005233218] Chr7:141651591 [GRCh38]
Chr7:141351391 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.142-15T>G single nucleotide variant Sengers syndrome [RCV005218536] Chr7:141596547 [GRCh38]
Chr7:141296347 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.101+13C>T single nucleotide variant Sengers syndrome [RCV005221598] Chr7:141555580 [GRCh38]
Chr7:141255380 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.976-1G>C single nucleotide variant Sengers syndrome [RCV005218023] Chr7:141649262 [GRCh38]
Chr7:141349062 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.297+12T>C single nucleotide variant Sengers syndrome [RCV005219058] Chr7:141601292 [GRCh38]
Chr7:141301092 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1065C>T (p.Asn355=) single nucleotide variant Sengers syndrome [RCV005221433] Chr7:141651543 [GRCh38]
Chr7:141351343 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.668+14A>G single nucleotide variant Sengers syndrome [RCV005216379] Chr7:141633994 [GRCh38]
Chr7:141333794 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.823T>C (p.Leu275=) single nucleotide variant Sengers syndrome [RCV005221871] Chr7:141641344 [GRCh38]
Chr7:141341144 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1098C>A (p.Leu366=) single nucleotide variant Sengers syndrome [RCV005218496] Chr7:141651576 [GRCh38]
Chr7:141351376 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1056G>A (p.Lys352=) single nucleotide variant Sengers syndrome [RCV005217681] Chr7:141651534 [GRCh38]
Chr7:141351334 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1047-5C>T single nucleotide variant Sengers syndrome [RCV005216676] Chr7:141651520 [GRCh38]
Chr7:141351320 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.269T>G (p.Leu90Ter) single nucleotide variant Sengers syndrome [RCV005217777] Chr7:141601252 [GRCh38]
Chr7:141301052 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.48A>G (p.Thr16=) single nucleotide variant Sengers syndrome [RCV005226076] Chr7:141555514 [GRCh38]
Chr7:141255314 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.902A>G (p.Glu301Gly) single nucleotide variant Inborn genetic diseases [RCV002771889] Chr7:141641835 [GRCh38]
Chr7:141341635 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.573T>C (p.Asp191=) single nucleotide variant Sengers syndrome [RCV002619900] Chr7:141621786 [GRCh38]
Chr7:141321586 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.785C>T (p.Pro262Leu) single nucleotide variant Sengers syndrome [RCV003100316] Chr7:141641306 [GRCh38]
Chr7:141341106 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.519-2A>G single nucleotide variant Sengers syndrome [RCV002847437] Chr7:141621730 [GRCh38]
Chr7:141321530 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_018238.4(AGK):c.145T>G (p.Phe49Val) single nucleotide variant Sengers syndrome [RCV002736208] Chr7:141596565 [GRCh38]
Chr7:141296365 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.141+16del deletion Sengers syndrome [RCV002825021] Chr7:141593201 [GRCh38]
Chr7:141293001 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp) single nucleotide variant Sengers syndrome [RCV002638498] Chr7:141652924 [GRCh38]
Chr7:141352724 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.650C>G (p.Ala217Gly) single nucleotide variant Inborn genetic diseases [RCV002983648] Chr7:141633962 [GRCh38]
Chr7:141333762 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.424-6C>G single nucleotide variant Inborn genetic diseases [RCV002957901]|Sengers syndrome [RCV002957900] Chr7:141615465 [GRCh38]
Chr7:141315265 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg) single nucleotide variant Sengers syndrome [RCV003056860] Chr7:141651526 [GRCh38]
Chr7:141351326 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.420T>G (p.Asp140Glu) single nucleotide variant Sengers syndrome [RCV002851700] Chr7:141614175 [GRCh38]
Chr7:141313975 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.1046+11T>C single nucleotide variant Sengers syndrome [RCV003024644] Chr7:141649344 [GRCh38]
Chr7:141349144 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.174A>G (p.Ala58=) single nucleotide variant Sengers syndrome [RCV003081829] Chr7:141596594 [GRCh38]
Chr7:141296394 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1046+7G>T single nucleotide variant Sengers syndrome [RCV002872734] Chr7:141649340 [GRCh38]
Chr7:141349140 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1020C>G (p.Ile340Met) single nucleotide variant Inborn genetic diseases [RCV002675082] Chr7:141649307 [GRCh38]
Chr7:141349107 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.874G>A (p.Asp292Asn) single nucleotide variant Sengers syndrome [RCV002811285] Chr7:141641395 [GRCh38]
Chr7:141341195 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.244A>G (p.Lys82Glu) single nucleotide variant Inborn genetic diseases [RCV002961707] Chr7:141601227 [GRCh38]
Chr7:141301027 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.900G>A (p.Pro300=) single nucleotide variant Sengers syndrome [RCV003071694] Chr7:141641833 [GRCh38]
Chr7:141341633 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1236G>A (p.Lys412=) single nucleotide variant Sengers syndrome [RCV003071190] Chr7:141652891 [GRCh38]
Chr7:141352691 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_018238.4(AGK):c.413G>A (p.Arg138Gln) single nucleotide variant Inborn genetic diseases [RCV003207345] Chr7:141614168 [GRCh38]
Chr7:141313968 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.545T>C (p.Ile182Thr) single nucleotide variant Inborn genetic diseases [RCV003379801] Chr7:141621758 [GRCh38]
Chr7:141321558 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_018238.4(AGK):c.896G>C (p.Ser299Thr) single nucleotide variant not provided [RCV004778441] Chr7:141641829 [GRCh38]
Chr7:141341629 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.588+2394C>T single nucleotide variant not provided [RCV003434198] Chr7:141624195 [GRCh38]
Chr7:141323995 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.258G>A (p.Pro86=) single nucleotide variant not provided [RCV003434197] Chr7:141601241 [GRCh38]
Chr7:141301041 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.257C>T (p.Pro86Leu) single nucleotide variant Sengers syndrome [RCV003781912] Chr7:141601240 [GRCh38]
Chr7:141301040 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.298-18G>A single nucleotide variant Sengers syndrome [RCV003796605] Chr7:141611177 [GRCh38]
Chr7:141310977 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1047-8G>A single nucleotide variant Sengers syndrome [RCV003790314] Chr7:141651517 [GRCh38]
Chr7:141351317 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.25C>T (p.Arg9Ter) single nucleotide variant Sengers syndrome [RCV003785050] Chr7:141555491 [GRCh38]
Chr7:141255291 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.424-14C>T single nucleotide variant Sengers syndrome [RCV003780864] Chr7:141615457 [GRCh38]
Chr7:141315257 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.237A>G (p.Leu79=) single nucleotide variant Sengers syndrome [RCV003798304] Chr7:141601220 [GRCh38]
Chr7:141301020 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_018238.4(AGK):c.-9C>G single nucleotide variant AGK-related disorder [RCV004531978] Chr7:141555458 [GRCh38]
Chr7:141255258 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.808G>A (p.Val270Ile) single nucleotide variant Inborn genetic diseases [RCV004389464] Chr7:141641329 [GRCh38]
Chr7:141341129 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_140434397)_(141759786_?)del deletion Sengers syndrome [RCV004583511] Chr7:140434397..141759786 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.854C>G (p.Ser285Cys) single nucleotide variant Inborn genetic diseases [RCV004620567] Chr7:141641375 [GRCh38]
Chr7:141341175 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_141351305)_(141352724_?)del deletion Sengers syndrome [RCV004583512] Chr7:141351305..141352724 [GRCh37]
Chr7:7q34		 pathogenic
NM_018238.4(AGK):c.932T>C (p.Ile311Thr) single nucleotide variant Inborn genetic diseases [RCV004979541] Chr7:141641865 [GRCh38]
Chr7:141341665 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.984A>C (p.Glu328Asp) single nucleotide variant Inborn genetic diseases [RCV004979542] Chr7:141649271 [GRCh38]
Chr7:141349071 [GRCh37]
Chr7:7q34		 uncertain significance
NM_018238.4(AGK):c.222-5A>G single nucleotide variant Sengers syndrome [RCV005229433] Chr7:141601200 [GRCh38]
Chr7:141301000 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.1122T>C (p.Leu374=) single nucleotide variant Sengers syndrome [RCV005228796] Chr7:141651600 [GRCh38]
Chr7:141351400 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.727-17T>C single nucleotide variant Sengers syndrome [RCV005225703] Chr7:141641231 [GRCh38]
Chr7:141341031 [GRCh37]
Chr7:7q34		 likely benign
NM_018238.4(AGK):c.270A>G (p.Leu90=) single nucleotide variant Sengers syndrome [RCV005210589] Chr7:141601253 [GRCh38]
Chr7:141301053 [GRCh37]
Chr7:7q34		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2612
Count of miRNA genes:1073
Interacting mature miRNAs:1275
Transcripts:ENST00000355413, ENST00000465241, ENST00000473247, ENST00000473884, ENST00000492693, ENST00000494053, ENST00000494688, ENST00000495028, ENST00000496273, ENST00000496784, ENST00000535825
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407385803GWAS1034779_Hintelligence QTL GWAS1034779 (human)0.000005intelligence7141572916141572917Human
597243869GWAS1339943_HUrinary incontinence QTL GWAS1339943 (human)0.0000002Urinary incontinence7141628345141628346Human
597184529GWAS1280603_Hmitochondrial heteroplasmy measurement QTL GWAS1280603 (human)1e-12mitochondrial heteroplasmy measurement7141637174141637175Human
597202998GWAS1299072_Hpsoriasis QTL GWAS1299072 (human)2e-15psoriasis7141614171141614172Human
407001453GWAS650429_Hprion disease, mood disorder QTL GWAS650429 (human)0.000002prion disease, mood disorder7141600811141600812Human

Markers in Region
RH45804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,353,424 - 141,353,544UniSTSGRCh37
Build 367140,999,893 - 141,000,013RGDNCBI36
Celera7136,075,056 - 136,075,176RGD
Cytogenetic Map7q34UniSTS
HuRef7135,650,808 - 135,650,928UniSTS
CRA_TCAGchr7v27140,691,133 - 140,691,253UniSTS
GeneMap99-GB4 RH Map7646.12UniSTS
RH80969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,352,204 - 141,352,439UniSTSGRCh37
Build 367140,998,673 - 140,998,908RGDNCBI36
Celera7136,073,836 - 136,074,071RGD
Cytogenetic Map7q34UniSTS
HuRef7135,649,588 - 135,649,823UniSTS
CRA_TCAGchr7v27140,689,913 - 140,690,148UniSTS
GeneMap99-GB4 RH Map7646.4UniSTS
SHGC-171949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,332,533 - 141,332,847UniSTSGRCh37
Build 367140,979,002 - 140,979,316RGDNCBI36
Celera7136,054,165 - 136,054,479RGD
Cytogenetic Map7q34UniSTS
HuRef7135,629,919 - 135,630,233UniSTS
CRA_TCAGchr7v27140,670,243 - 140,670,557UniSTS
TNG Radiation Hybrid Map763645.0UniSTS
D7S1627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,331,016 - 141,331,086UniSTSGRCh37
Build 367140,977,485 - 140,977,555RGDNCBI36
Celera7136,052,648 - 136,052,718RGD
Cytogenetic Map7q34UniSTS
HuRef7135,628,402 - 135,628,472UniSTS
CRA_TCAGchr7v27140,668,726 - 140,668,796UniSTS
D7S2726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,289,110 - 141,289,301UniSTSGRCh37
Build 367140,935,579 - 140,935,770RGDNCBI36
Celera7136,010,739 - 136,010,930RGD
Cytogenetic Map7q34UniSTS
HuRef7135,586,510 - 135,586,701UniSTS
CRA_TCAGchr7v27140,626,823 - 140,627,014UniSTS
TNG Radiation Hybrid Map763656.0UniSTS
Stanford-G3 RH Map76088.0UniSTS
G31090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,352,262 - 141,352,391UniSTSGRCh37
Build 367140,998,731 - 140,998,860RGDNCBI36
Celera7136,073,894 - 136,074,023RGD
Cytogenetic Map7q34UniSTS
HuRef7135,649,646 - 135,649,775UniSTS
CRA_TCAGchr7v27140,689,971 - 140,690,100UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW961934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX877343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB032353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000465241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,456 - 141,616,024 (+)Ensembl
Ensembl Acc Id: ENST00000473247   ⟹   ENSP00000420776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,395 - 141,653,147 (+)Ensembl
Ensembl Acc Id: ENST00000473884   ⟹   ENSP00000420540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,418 - 141,621,790 (+)Ensembl
Ensembl Acc Id: ENST00000492693   ⟹   ENSP00000418789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,453 - 141,594,195 (+)Ensembl
Ensembl Acc Id: ENST00000494053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,649,131 - 141,653,065 (+)Ensembl
Ensembl Acc Id: ENST00000494688   ⟹   ENSP00000418101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,453 - 141,651,575 (+)Ensembl
Ensembl Acc Id: ENST00000495028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,410 - 141,599,308 (+)Ensembl
Ensembl Acc Id: ENST00000496273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,601,221 - 141,616,368 (+)Ensembl
Ensembl Acc Id: ENST00000496784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,466 - 141,597,340 (+)Ensembl
Ensembl Acc Id: ENST00000629555   ⟹   ENSP00000487274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,278 - 141,654,409 (+)Ensembl
Ensembl Acc Id: ENST00000647568   ⟹   ENSP00000497039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,419 - 141,653,857 (+)Ensembl
Ensembl Acc Id: ENST00000647898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,593,155 - 141,625,585 (+)Ensembl
Ensembl Acc Id: ENST00000648068   ⟹   ENSP00000498112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,434 - 141,653,831 (+)Ensembl
Ensembl Acc Id: ENST00000648395   ⟹   ENSP00000497666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,432 - 141,654,072 (+)Ensembl
Ensembl Acc Id: ENST00000648489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,407 - 141,650,551 (+)Ensembl
Ensembl Acc Id: ENST00000648690   ⟹   ENSP00000497945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,410 - 141,636,981 (+)Ensembl
Ensembl Acc Id: ENST00000649014   ⟹   ENSP00000497984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,404 - 141,654,231 (+)Ensembl
Ensembl Acc Id: ENST00000649286   ⟹   ENSP00000497280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,410 - 141,655,244 (+)Ensembl
Ensembl Acc Id: ENST00000649365   ⟹   ENSP00000496835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,403 - 141,654,052 (+)Ensembl
Ensembl Acc Id: ENST00000649538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,439 - 141,615,880 (+)Ensembl
Ensembl Acc Id: ENST00000649790   ⟹   ENSP00000498193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,412 - 141,654,226 (+)Ensembl
Ensembl Acc Id: ENST00000649914   ⟹   ENSP00000497848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,419 - 141,654,097 (+)Ensembl
Ensembl Acc Id: ENST00000650006   ⟹   ENSP00000497457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,555,439 - 141,650,599 (+)Ensembl
Ensembl Acc Id: ENST00000650365   ⟹   ENSP00000497358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,407 - 141,652,888 (+)Ensembl
Ensembl Acc Id: ENST00000650547   ⟹   ENSP00000496789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,551,564 - 141,654,058 (+)Ensembl
RefSeq Acc Id: NM_001364948   ⟹   NP_001351877
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,551,410 - 141,650,603 (+)NCBI
T2T-CHM13v2.07142,867,259 - 142,966,455 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018238   ⟹   NP_060708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,551,410 - 141,655,244 (+)NCBI
GRCh377141,251,078 - 141,354,209 (+)RGD
GRCh377141,251,078 - 141,354,209 (+)NCBI
Build 367140,897,693 - 141,000,678 (+)NCBI Archive
Celera7135,972,707 - 136,075,841 (+)RGD
HuRef7135,547,396 - 135,651,593 (+)RGD
CHM1_17141,185,395 - 141,288,517 (+)NCBI
T2T-CHM13v2.07142,867,259 - 142,971,096 (+)NCBI
CRA_TCAGchr7v27140,588,796 - 140,691,918 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011516397   ⟹   XP_011514699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,551,684 - 141,655,244 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446835   ⟹   XP_024302603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,551,410 - 141,655,244 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358643   ⟹   XP_054214618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,867,533 - 142,971,096 (+)NCBI
RefSeq Acc Id: XM_054358644   ⟹   XP_054214619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,867,231 - 142,971,096 (+)NCBI
RefSeq Acc Id: NP_060708   ⟸   NM_018238
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96GC3 (UniProtKB/Swiss-Prot),   Q75KN1 (UniProtKB/Swiss-Prot),   Q9NP48 (UniProtKB/Swiss-Prot),   Q53H12 (UniProtKB/Swiss-Prot),   A4D1U5 (UniProtKB/TrEMBL),   E9PC15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514699   ⟸   XM_011516397
- Peptide Label: isoform X1
- UniProtKB: Q96GC3 (UniProtKB/Swiss-Prot),   Q75KN1 (UniProtKB/Swiss-Prot),   Q9NP48 (UniProtKB/Swiss-Prot),   Q53H12 (UniProtKB/Swiss-Prot),   A4D1U5 (UniProtKB/TrEMBL),   E9PC15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302603   ⟸   XM_024446835
- Peptide Label: isoform X1
- UniProtKB: Q96GC3 (UniProtKB/Swiss-Prot),   Q75KN1 (UniProtKB/Swiss-Prot),   Q53H12 (UniProtKB/Swiss-Prot),   Q9NP48 (UniProtKB/Swiss-Prot),   A4D1U5 (UniProtKB/TrEMBL),   E9PC15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351877   ⟸   NM_001364948
- Peptide Label: isoform 2
- UniProtKB: A0A3B3ISZ0 (UniProtKB/TrEMBL),   E9PC15 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000498112   ⟸   ENST00000648068
Ensembl Acc Id: ENSP00000497945   ⟸   ENST00000648690
Ensembl Acc Id: ENSP00000497666   ⟸   ENST00000648395
Ensembl Acc Id: ENSP00000496835   ⟸   ENST00000649365
Ensembl Acc Id: ENSP00000497280   ⟸   ENST00000649286
Ensembl Acc Id: ENSP00000497848   ⟸   ENST00000649914
Ensembl Acc Id: ENSP00000498193   ⟸   ENST00000649790
Ensembl Acc Id: ENSP00000497984   ⟸   ENST00000649014
Ensembl Acc Id: ENSP00000418789   ⟸   ENST00000492693
Ensembl Acc Id: ENSP00000496789   ⟸   ENST00000650547
Ensembl Acc Id: ENSP00000497358   ⟸   ENST00000650365
Ensembl Acc Id: ENSP00000497457   ⟸   ENST00000650006
Ensembl Acc Id: ENSP00000418101   ⟸   ENST00000494688
Ensembl Acc Id: ENSP00000487274   ⟸   ENST00000629555
Ensembl Acc Id: ENSP00000420776   ⟸   ENST00000473247
Ensembl Acc Id: ENSP00000420540   ⟸   ENST00000473884
Ensembl Acc Id: ENSP00000497039   ⟸   ENST00000647568
RefSeq Acc Id: XP_054214619   ⟸   XM_054358644
- Peptide Label: isoform X1
- UniProtKB: Q9NP48 (UniProtKB/Swiss-Prot),   Q96GC3 (UniProtKB/Swiss-Prot),   Q75KN1 (UniProtKB/Swiss-Prot),   Q53H12 (UniProtKB/Swiss-Prot),   E9PC15 (UniProtKB/TrEMBL),   A4D1U5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214618   ⟸   XM_054358643
- Peptide Label: isoform X1
- UniProtKB: Q9NP48 (UniProtKB/Swiss-Prot),   Q96GC3 (UniProtKB/Swiss-Prot),   Q75KN1 (UniProtKB/Swiss-Prot),   Q53H12 (UniProtKB/Swiss-Prot),   E9PC15 (UniProtKB/TrEMBL),   A4D1U5 (UniProtKB/TrEMBL)
Protein Domains
Acylglycerol kinase C-terminal   DAGKc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53H12-F1-model_v2 AlphaFold Q53H12 1-422 view protein structure

Promoters
RGD ID:6805219
Promoter ID:HG_KWN:59975
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018238,   UC003VWH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367140,897,404 - 140,897,904 (+)MPROMDB
RGD ID:7212117
Promoter ID:EPDNEW_H11805
Type:initiation region
Name:AGK_1
Description:acylglycerol kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,551,410 - 141,551,470EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21869 AgrOrtholog
COSMIC AGK COSMIC
Ensembl Genes ENSG00000006530 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000262327 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000492693.5 UniProtKB/Swiss-Prot
  ENST00000575872.2 UniProtKB/Swiss-Prot
  ENST00000648068.1 UniProtKB/Swiss-Prot
  ENST00000649286 ENTREZGENE
  ENST00000649286.2 UniProtKB/Swiss-Prot
  ENST00000650006 ENTREZGENE
  ENST00000650547 ENTREZGENE
  ENST00000650547.1 UniProtKB/Swiss-Prot
Gene3D-CATH Probable inorganic polyphosphate/atp-NAD kinase, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000006530 GTEx
  ENSG00000262327 GTEx
HGNC ID HGNC:21869 ENTREZGENE
Human Proteome Map AGK Human Proteome Map
InterPro AGK_C UniProtKB/Swiss-Prot
  ATP-NAD_kinase_N UniProtKB/Swiss-Prot
  Diacylglycerol_kinase_cat_dom UniProtKB/Swiss-Prot
  Lipid_Phosphate_FormReg UniProtKB/Swiss-Prot
  NAD/diacylglycerol_kinase_sf UniProtKB/Swiss-Prot
KEGG Report hsa:55750 UniProtKB/Swiss-Prot
NCBI Gene 55750 ENTREZGENE
OMIM 610345 OMIM
PANTHER ACYLGLYCEROL KINASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
  SPHINGOSINE KINASE UniProtKB/Swiss-Prot
Pfam AGK_C UniProtKB/Swiss-Prot
  DAGK_cat UniProtKB/Swiss-Prot
PharmGKB PA162375851 PharmGKB
PROSITE DAGK UniProtKB/Swiss-Prot
SMART DAGKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF111331 UniProtKB/Swiss-Prot
UniProt A0A0G2JLD0_HUMAN UniProtKB/TrEMBL
  A0A0G2JLG5_HUMAN UniProtKB/TrEMBL
  A0A3B3IRM6_HUMAN UniProtKB/TrEMBL
  A0A3B3IS09_HUMAN UniProtKB/TrEMBL
  A0A3B3ISY9_HUMAN UniProtKB/TrEMBL
  A0A3B3ISZ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ITD0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITV0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITX7_HUMAN UniProtKB/TrEMBL
  A0A3B3IUC9_HUMAN UniProtKB/TrEMBL
  A4D1U5 ENTREZGENE, UniProtKB/TrEMBL
  AGK_HUMAN UniProtKB/Swiss-Prot
  E9PC15 ENTREZGENE, UniProtKB/TrEMBL
  E9PG39_HUMAN UniProtKB/TrEMBL
  F8WDD1_HUMAN UniProtKB/TrEMBL
  Q53H12 ENTREZGENE
  Q75KN1 ENTREZGENE
  Q96GC3 ENTREZGENE
  Q9NP48 ENTREZGENE
UniProt Secondary Q75KN1 UniProtKB/Swiss-Prot
  Q96GC3 UniProtKB/Swiss-Prot
  Q9NP48 UniProtKB/Swiss-Prot