KCNJ13 (potassium inwardly rectifying channel subfamily J member 13) - Rat Genome Database

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Gene: KCNJ13 (potassium inwardly rectifying channel subfamily J member 13) Homo sapiens
Analyze
Symbol: KCNJ13
Name: potassium inwardly rectifying channel subfamily J member 13
RGD ID: 734216
HGNC Page HGNC:6259
Description: Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Implicated in Leber congenital amaurosis 16 and snowflake vitreoretinal degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: inward rectifier K(+) channel Kir7.1; inward rectifier potassium channel 13; KIR1.4; KIR7.1; LCA16; MGC33328; potassium channel, inwardly rectifying subfamily J, member 13; potassium inwardly-rectifying channel, subfamily J, member 13; potassium voltage-gated channel subfamily J member 13; SVD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382232,765,802 - 232,776,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2232,765,802 - 232,776,565 (-)EnsemblGRCh38hg38GRCh38
GRCh372233,630,512 - 233,641,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362233,339,104 - 233,349,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 342233,456,678 - 233,466,780NCBI
Celera2227,394,843 - 227,405,607 (-)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2225,479,819 - 225,490,582 (-)NCBIHuRef
CHM1_12233,636,578 - 233,647,341 (-)NCBICHM1_1
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBIT2T-CHM13v2.0
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9620703   PMID:9738472   PMID:9786970   PMID:9878260   PMID:10455019   PMID:12477932   PMID:15489334   PMID:15557460   PMID:16344560   PMID:16382105   PMID:18035352   PMID:18094146  
PMID:18179896   PMID:18391953   PMID:18976636   PMID:19240061   PMID:19460752   PMID:20301475   PMID:21763485   PMID:21873635   PMID:22706862   PMID:23974872   PMID:23977131   PMID:24667918  
PMID:25056061   PMID:25056913   PMID:25475713   PMID:25921210   PMID:27203561   PMID:28603013   PMID:28878288   PMID:29058194   PMID:30285347   PMID:31647904   PMID:32437550   PMID:35477418  
PMID:36717105  


Genomics

Comparative Map Data
KCNJ13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382232,765,802 - 232,776,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2232,765,802 - 232,776,565 (-)EnsemblGRCh38hg38GRCh38
GRCh372233,630,512 - 233,641,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362233,339,104 - 233,349,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 342233,456,678 - 233,466,780NCBI
Celera2227,394,843 - 227,405,607 (-)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2225,479,819 - 225,490,582 (-)NCBIHuRef
CHM1_12233,636,578 - 233,647,341 (-)NCBICHM1_1
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBIT2T-CHM13v2.0
Kcnj13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39187,312,299 - 87,322,451 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl187,314,085 - 87,322,451 (-)EnsemblGRCm39 Ensembl
GRCm38187,384,577 - 87,394,729 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl187,386,363 - 87,394,729 (-)EnsemblGRCm38mm10GRCm38
MGSCv37189,282,859 - 89,291,304 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36189,282,859 - 89,291,304 (-)NCBIMGSCv36mm8
Celera190,359,331 - 90,367,770 (-)NCBICelera
Cytogenetic Map1DNCBI
cM Map144.3NCBI
Kcnj13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8995,509,228 - 95,528,400 (-)NCBIGRCr8
mRatBN7.2988,063,003 - 88,071,112 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl988,063,003 - 88,071,112 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx996,487,431 - 96,495,537 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09101,623,514 - 101,631,620 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0999,991,249 - 99,999,358 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0994,486,719 - 94,495,333 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl994,487,224 - 94,495,333 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0994,208,941 - 94,224,828 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4986,206,927 - 86,216,659 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1986,390,345 - 86,400,078 (-)NCBI
Celera985,473,896 - 85,482,003 (-)NCBICelera
Cytogenetic Map9q35NCBI
Kcnj13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554533,249,602 - 3,269,394 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554533,259,924 - 3,269,394 (+)NCBIChiLan1.0ChiLan1.0
KCNJ13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213135,373,985 - 135,392,916 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B135,388,950 - 135,399,243 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B119,997,643 - 120,009,927 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B238,915,393 - 238,926,178 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B238,916,083 - 238,926,178 (-)Ensemblpanpan1.1panPan2
KCNJ13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12544,377,848 - 44,388,537 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2544,379,635 - 44,387,993 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2544,873,627 - 44,882,386 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02544,636,927 - 44,645,691 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2544,637,261 - 44,645,628 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12544,562,301 - 44,571,052 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02544,408,250 - 44,417,014 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02544,563,331 - 44,572,089 (-)NCBIUU_Cfam_GSD_1.0
Kcnj13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303186,565,589 - 186,577,340 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365254,362,376 - 4,374,414 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365254,361,755 - 4,374,130 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15133,237,960 - 133,249,400 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115133,239,843 - 133,249,630 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215147,163,959 - 147,173,540 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110118,791,496 - 118,803,212 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10118,793,445 - 118,796,563 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604080,705,552 - 80,716,267 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnj13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248435,460,193 - 5,471,250 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248435,460,452 - 5,471,478 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNJ13
229 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) single nucleotide variant Leber congenital amaurosis 16 [RCV000023266] Chr2:232768778 [GRCh38]
Chr2:233633488 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) single nucleotide variant Leber congenital amaurosis 16 [RCV000023267] Chr2:232768552 [GRCh38]
Chr2:233633262 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) single nucleotide variant Snowflake vitreoretinal degeneration [RCV000006963]|not provided [RCV001389454] Chr2:232768790 [GRCh38]
Chr2:233633500 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) single nucleotide variant Leber congenital amaurosis 16 [RCV000210435]|not provided [RCV000171339] Chr2:232771004 [GRCh38]
Chr2:233635714 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|likely benign|no classifications from unflagged records
NM_002242.4(KCNJ13):c.460+6T>C single nucleotide variant not provided [RCV001312546] Chr2:232770897 [GRCh38]
Chr2:233635607 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.866T>C (p.Leu289Pro) single nucleotide variant not provided [RCV001310781] Chr2:232768408 [GRCh38]
Chr2:233633118 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_002242.4(KCNJ13):c.632A>G (p.Glu211Gly) single nucleotide variant not provided [RCV000153388] Chr2:232768642 [GRCh38]
Chr2:233633352 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV000153389] Chr2:232768801 [GRCh38]
Chr2:233633511 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*619C>T single nucleotide variant Leber congenital amaurosis 16 [RCV000260133] Chr2:232767572 [GRCh38]
Chr2:233632282 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) single nucleotide variant Leber congenital amaurosis 16 [RCV000197888]|Leber congenital amaurosis [RCV000515663]|not provided [RCV005090017] Chr2:232770905 [GRCh38]
Chr2:233635615 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
KCNJ13, ILE120THR variation Leber congenital amaurosis 16 [RCV000210435]   pathogenic
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) single nucleotide variant Leber congenital amaurosis 16 [RCV000210439] Chr2:232771205 [GRCh38]
Chr2:233635915 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_002242.4(KCNJ13):c.*2324C>T single nucleotide variant Leber congenital amaurosis 16 [RCV000285460]|not provided [RCV004694540] Chr2:232765867 [GRCh38]
Chr2:233630577 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.-74C>T single nucleotide variant Leber congenital amaurosis 16 [RCV000266316] Chr2:232776502 [GRCh38]
Chr2:233641212 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1482_*1484del deletion Leber congenital amaurosis [RCV000275732] Chr2:232766707..232766709 [GRCh38]
Chr2:233631417..233631419 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1867T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000397480] Chr2:232766324 [GRCh38]
Chr2:233631034 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1201C>T single nucleotide variant Leber congenital amaurosis 16 [RCV000314496]|not provided [RCV003221933] Chr2:232766990 [GRCh38]
Chr2:233631700 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_002242.4(KCNJ13):c.*692T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000375787] Chr2:232767499 [GRCh38]
Chr2:233632209 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*179CT[1] microsatellite Leber congenital amaurosis [RCV000377818] Chr2:232768009..232768010 [GRCh38]
Chr2:233632719..233632720 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) single nucleotide variant Leber congenital amaurosis 16 [RCV000355444]|not provided [RCV001521685] Chr2:232768750 [GRCh38]
Chr2:233633460 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_002242.4(KCNJ13):c.*1839A>G single nucleotide variant Leber congenital amaurosis 16 [RCV000302953] Chr2:232766352 [GRCh38]
Chr2:233631062 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_002242.4(KCNJ13):c.*371T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000317854] Chr2:232767820 [GRCh38]
Chr2:233632530 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*761C>T single nucleotide variant Leber congenital amaurosis 16 [RCV000318858] Chr2:232767430 [GRCh38]
Chr2:233632140 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_002242.4(KCNJ13):c.*290T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000287399] Chr2:232767901 [GRCh38]
Chr2:233632611 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*94A>C single nucleotide variant Leber congenital amaurosis 16 [RCV000289589] Chr2:232768097 [GRCh38]
Chr2:233632807 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*256G>A single nucleotide variant Leber congenital amaurosis 16 [RCV000340018] Chr2:232767935 [GRCh38]
Chr2:233632645 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*135A>G single nucleotide variant Leber congenital amaurosis 16 [RCV000290406]|not provided [RCV004708554] Chr2:232768056 [GRCh38]
Chr2:233632766 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_002242.4(KCNJ13):c.*1881T>A single nucleotide variant Leber congenital amaurosis 16 [RCV000342736] Chr2:232766310 [GRCh38]
Chr2:233631020 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1500G>A single nucleotide variant Leber congenital amaurosis 16 [RCV000363316] Chr2:232766691 [GRCh38]
Chr2:233631401 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.-110A>T single nucleotide variant Leber congenital amaurosis 16 [RCV000323779] Chr2:232776538 [GRCh38]
Chr2:233641248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1088T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000366853] Chr2:232767103 [GRCh38]
Chr2:233631813 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*121A>G single nucleotide variant Leber congenital amaurosis 16 [RCV000347728] Chr2:232768070 [GRCh38]
Chr2:233632780 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.-74CT[1] microsatellite Leber congenital amaurosis [RCV000297093] Chr2:232776499..232776500 [GRCh38]
Chr2:233641209..233641210 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) single nucleotide variant Leber congenital amaurosis 16 [RCV000395001]|not provided [RCV001465808] Chr2:232768800 [GRCh38]
Chr2:233633510 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) single nucleotide variant Leber congenital amaurosis 16 [RCV000351530]|not provided [RCV001203187]|not specified [RCV004021802] Chr2:232768585 [GRCh38]
Chr2:233633295 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1742dup duplication Leber congenital amaurosis [RCV000306471] Chr2:232766448..232766449 [GRCh38]
Chr2:233631158..233631159 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*957A>G single nucleotide variant Leber congenital amaurosis 16 [RCV000275494] Chr2:232767234 [GRCh38]
Chr2:233631944 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=) single nucleotide variant not provided [RCV000408288] Chr2:232768716 [GRCh38]
Chr2:233633426 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002242.4(KCNJ13):c.*1804G>A single nucleotide variant Leber congenital amaurosis 16 [RCV000346179] Chr2:232766387 [GRCh38]
Chr2:233631097 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*102T>G single nucleotide variant Leber congenital amaurosis 16 [RCV000405031] Chr2:232768089 [GRCh38]
Chr2:233632799 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.-73T>C single nucleotide variant Leber congenital amaurosis 16 [RCV000354277] Chr2:232776501 [GRCh38]
Chr2:233641211 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) single nucleotide variant Leber congenital amaurosis 16 [RCV000311837] Chr2:232768726 [GRCh38]
Chr2:233633436 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.621A>G (p.Val207=) single nucleotide variant Leber congenital amaurosis 16 [RCV000394997] Chr2:232768653 [GRCh38]
Chr2:233633363 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*342A>G single nucleotide variant Leber congenital amaurosis 16 [RCV000379488] Chr2:232767849 [GRCh38]
Chr2:233632559 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1758T>A single nucleotide variant Leber congenital amaurosis 16 [RCV000397488] Chr2:232766433 [GRCh38]
Chr2:233631143 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*467A>C single nucleotide variant Leber congenital amaurosis 16 [RCV001139345] Chr2:232767724 [GRCh38]
Chr2:233632434 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3 copy number gain See cases [RCV000447269] Chr2:233055165..233763272 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002242.4(KCNJ13):c.134G>C (p.Trp45Ser) single nucleotide variant not provided [RCV001069011] Chr2:232771229 [GRCh38]
Chr2:233635939 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_002242.4(KCNJ13):c.*1635T>C single nucleotide variant Leber congenital amaurosis 16 [RCV001137098] Chr2:232766556 [GRCh38]
Chr2:233631266 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.141C>T (p.Ile47=) single nucleotide variant Leber congenital amaurosis 16 [RCV001137214]|not provided [RCV002070602] Chr2:232771222 [GRCh38]
Chr2:233635932 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_002242.4(KCNJ13):c.*1553T>G single nucleotide variant Leber congenital amaurosis 16 [RCV001137099] Chr2:232766638 [GRCh38]
Chr2:233631348 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1195G>T single nucleotide variant Leber congenital amaurosis 16 [RCV001137100] Chr2:232766996 [GRCh38]
Chr2:233631706 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*856A>G single nucleotide variant Leber congenital amaurosis 16 [RCV001139341] Chr2:232767335 [GRCh38]
Chr2:233632045 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*615C>T single nucleotide variant Leber congenital amaurosis 16 [RCV001139344] Chr2:232767576 [GRCh38]
Chr2:233632286 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_002242.4(KCNJ13):c.379C>T (p.Pro127Ser) single nucleotide variant not provided [RCV001213671] Chr2:232770984 [GRCh38]
Chr2:233635694 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.608G>A (p.Arg203Gln) single nucleotide variant not provided [RCV001231843] Chr2:232768666 [GRCh38]
Chr2:233633376 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.69G>C (p.Lys23Asn) single nucleotide variant not provided [RCV001241285] Chr2:232771294 [GRCh38]
Chr2:233636004 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.22G>C (p.Val8Leu) single nucleotide variant not provided [RCV001226060] Chr2:232771341 [GRCh38]
Chr2:233636051 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.403del (p.Ile135fs) deletion not provided [RCV003312529] Chr2:232770960 [GRCh38]
Chr2:233635670 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro) single nucleotide variant Leber congenital amaurosis 16 [RCV001137215] Chr2:232771238 [GRCh38]
Chr2:233635948 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001103146.3(GIGYF2):c.532+7590A>G single nucleotide variant not provided [RCV001639808] Chr2:232769026 [GRCh38]
Chr2:233633736 [GRCh37]
Chr2:2q37.1		 benign
NM_002242.4(KCNJ13):c.117A>G (p.Ala39=) single nucleotide variant not provided [RCV000964781] Chr2:232771246 [GRCh38]
Chr2:233635956 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.438C>T (p.Leu146=) single nucleotide variant not provided [RCV000943306] Chr2:232770925 [GRCh38]
Chr2:233635635 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.558T>G (p.Asn186Lys) single nucleotide variant not provided [RCV001212569] Chr2:232768716 [GRCh38]
Chr2:233633426 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.161G>A (p.Arg54His) single nucleotide variant not provided [RCV001060470] Chr2:232771202 [GRCh38]
Chr2:233635912 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*2153G>A single nucleotide variant Leber congenital amaurosis 16 [RCV001141867] Chr2:232766038 [GRCh38]
Chr2:233630748 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*326A>G single nucleotide variant Leber congenital amaurosis 16 [RCV001141965] Chr2:232767865 [GRCh38]
Chr2:233632575 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1718T>C single nucleotide variant Leber congenital amaurosis 16 [RCV001143662] Chr2:232766473 [GRCh38]
Chr2:233631183 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.930A>G (p.Glu310=) single nucleotide variant not provided [RCV000997698] Chr2:232768344 [GRCh38]
Chr2:233633054 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001103146.3(GIGYF2):c.532+9242A>C single nucleotide variant not provided [RCV001637210] Chr2:232770678 [GRCh38]
Chr2:233635388 [GRCh37]
Chr2:2q37.1		 benign
NM_002242.4(KCNJ13):c.53G>A (p.Arg18Gln) single nucleotide variant not provided [RCV001044483]|not specified [RCV004031361] Chr2:232771310 [GRCh38]
Chr2:233636020 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_002242.4(KCNJ13):c.*1757A>T single nucleotide variant Leber congenital amaurosis 16 [RCV001143661] Chr2:232766434 [GRCh38]
Chr2:233631144 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) single nucleotide variant Leber congenital amaurosis 16 [RCV001143771]|Retinal dystrophy [RCV004813798]|not provided [RCV001304511] Chr2:232768789 [GRCh38]
Chr2:233633499 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*620G>A single nucleotide variant Leber congenital amaurosis 16 [RCV001139343] Chr2:232767571 [GRCh38]
Chr2:233632281 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.700T>A (p.Cys234Ser) single nucleotide variant not provided [RCV001044913] Chr2:232768574 [GRCh38]
Chr2:233633284 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.905T>C (p.Leu302Pro) single nucleotide variant not provided [RCV001047808]|not specified [RCV004629420] Chr2:232768369 [GRCh38]
Chr2:233633079 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*784T>C single nucleotide variant Leber congenital amaurosis 16 [RCV001139342] Chr2:232767407 [GRCh38]
Chr2:233632117 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.27T>G (p.Ile9Met) single nucleotide variant Retinal dystrophy [RCV001073980]|not provided [RCV001862813]|not specified [RCV004031179] Chr2:232771336 [GRCh38]
Chr2:233636046 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.781A>C (p.Asn261His) single nucleotide variant not provided [RCV001247022] Chr2:232768493 [GRCh38]
Chr2:233633203 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr) single nucleotide variant Leber congenital amaurosis 16 [RCV001137213]|not provided [RCV001856753] Chr2:232771121 [GRCh38]
Chr2:233635831 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*2225G>A single nucleotide variant Leber congenital amaurosis 16 [RCV001141866]|not provided [RCV004711532] Chr2:232765966 [GRCh38]
Chr2:233630676 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.*2007T>G single nucleotide variant Leber congenital amaurosis 16 [RCV001143660] Chr2:232766184 [GRCh38]
Chr2:233630894 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*68T>C single nucleotide variant Leber congenital amaurosis 16 [RCV001143769] Chr2:232768123 [GRCh38]
Chr2:233632833 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.341T>C (p.Leu114Pro) single nucleotide variant Retinal dystrophy [RCV001073920]|not provided [RCV001360749] Chr2:232771022 [GRCh38]
Chr2:233635732 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.*1159T>C single nucleotide variant Leber congenital amaurosis 16 [RCV001137101] Chr2:232767032 [GRCh38]
Chr2:233631742 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.418_427del (p.Ile140fs) deletion not provided [RCV001213672] Chr2:232770936..232770945 [GRCh38]
Chr2:233635646..233635655 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.870G>A (p.Pro290=) single nucleotide variant Leber congenital amaurosis 16 [RCV001143770]|not provided [RCV002557062] Chr2:232768404 [GRCh38]
Chr2:233633114 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter) single nucleotide variant Leber congenital amaurosis 16 [RCV001257099] Chr2:232768619 [GRCh38]
Chr2:233633329 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) single nucleotide variant Leber congenital amaurosis 16 [RCV001257100] Chr2:232771049 [GRCh38]
Chr2:233635759 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_002242.4(KCNJ13):c.494del (p.Asn165fs) deletion Leber congenital amaurosis 16 [RCV001257098] Chr2:232768780 [GRCh38]
Chr2:233633490 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_002242.4(KCNJ13):c.707T>A (p.Phe236Tyr) single nucleotide variant not provided [RCV001295026] Chr2:232768567 [GRCh38]
Chr2:233633277 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.524_525inv (p.Thr175Met) inversion not provided [RCV001352424] Chr2:232768749..232768750 [GRCh38]
Chr2:233633459..233633460 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1043T>C (p.Ile348Thr) single nucleotide variant Retinal dystrophy [RCV004815415]|not provided [RCV001343867]|not specified [RCV004036409] Chr2:232768231 [GRCh38]
Chr2:233632941 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.528A>G (p.Ala176=) single nucleotide variant not provided [RCV001396699] Chr2:232768746 [GRCh38]
Chr2:233633456 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter) single nucleotide variant not provided [RCV001307652] Chr2:232768361 [GRCh38]
Chr2:233633071 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.979A>G (p.Thr327Ala) single nucleotide variant not provided [RCV001312593] Chr2:232768295 [GRCh38]
Chr2:233633005 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.479T>C (p.Ile160Thr) single nucleotide variant Retinal dystrophy [RCV004815335]|not provided [RCV001312940]|not specified [RCV004034272] Chr2:232768795 [GRCh38]
Chr2:233633505 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) single nucleotide variant Leber congenital amaurosis 16 [RCV001269022]|Retinitis pigmentosa [RCV004813155] Chr2:232770932 [GRCh38]
Chr2:233635642 [GRCh37]
Chr2:2q37.1		 likely pathogenic|uncertain significance
NM_002242.4(KCNJ13):c.803T>C (p.Val268Ala) single nucleotide variant not provided [RCV001324094]|not specified [RCV004035118] Chr2:232768471 [GRCh38]
Chr2:233633181 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.796G>T (p.Glu266Ter) single nucleotide variant not provided [RCV003859899] Chr2:232768478 [GRCh38]
Chr2:233633188 [GRCh37]
Chr2:2q37.1		 pathogenic|uncertain significance
NM_002242.4(KCNJ13):c.305A>G (p.Tyr102Cys) single nucleotide variant not provided [RCV001316766] Chr2:232771058 [GRCh38]
Chr2:233635768 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.184G>T (p.Ala62Ser) single nucleotide variant not provided [RCV001309930] Chr2:232771179 [GRCh38]
Chr2:233635889 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.460+1G>C single nucleotide variant not provided [RCV001307140] Chr2:232770902 [GRCh38]
Chr2:233635612 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.709T>C (p.Phe237Leu) single nucleotide variant not provided [RCV001338370] Chr2:232768565 [GRCh38]
Chr2:233633275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.584G>A (p.Arg195Gln) single nucleotide variant Snowflake vitreoretinal degeneration [RCV001328936]|not provided [RCV001310782] Chr2:232768690 [GRCh38]
Chr2:233633400 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.652T>C (p.Tyr218His) single nucleotide variant not provided [RCV001347957] Chr2:232768622 [GRCh38]
Chr2:233633332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.622C>G (p.Leu208Val) single nucleotide variant not provided [RCV001350967] Chr2:232768652 [GRCh38]
Chr2:233633362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.779A>G (p.Glu260Gly) single nucleotide variant not provided [RCV001371218]|not specified [RCV004037498] Chr2:232768495 [GRCh38]
Chr2:233633205 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1010C>T (p.Thr337Ile) single nucleotide variant not provided [RCV001314733] Chr2:232768264 [GRCh38]
Chr2:233632974 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.722T>A (p.Leu241Gln) single nucleotide variant not provided [RCV001325587]|not specified [RCV004035172] Chr2:232768552 [GRCh38]
Chr2:233633262 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.965T>C (p.Val322Ala) single nucleotide variant not provided [RCV001325994] Chr2:232768309 [GRCh38]
Chr2:233633019 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.405C>T (p.Ile135=) single nucleotide variant not provided [RCV001435706] Chr2:232770958 [GRCh38]
Chr2:233635668 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.474G>T (p.Ala158=) single nucleotide variant not provided [RCV001506873]|not specified [RCV004037864] Chr2:232768800 [GRCh38]
Chr2:233633510 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_002242.4(KCNJ13):c.807A>G (p.Val269=) single nucleotide variant not provided [RCV001485695] Chr2:232768467 [GRCh38]
Chr2:233633177 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.402A>G (p.Ala134=) single nucleotide variant not provided [RCV001456231] Chr2:232770961 [GRCh38]
Chr2:233635671 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.213T>C (p.Phe71=) single nucleotide variant not provided [RCV001489980] Chr2:232771150 [GRCh38]
Chr2:233635860 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.315T>C (p.Ser105=) single nucleotide variant not provided [RCV001445527] Chr2:232771048 [GRCh38]
Chr2:233635758 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.366T>C (p.Tyr122=) single nucleotide variant not provided [RCV001398845] Chr2:232770997 [GRCh38]
Chr2:233635707 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala) single nucleotide variant not provided [RCV001521269] Chr2:232768447 [GRCh38]
Chr2:233633157 [GRCh37]
Chr2:2q37.1		 benign|conflicting interpretations of pathogenicity
NM_002242.4(KCNJ13):c.461-20dup duplication not provided [RCV001512554] Chr2:232768832..232768833 [GRCh38]
Chr2:233633542..233633543 [GRCh37]
Chr2:2q37.1		 benign
NM_002242.4(KCNJ13):c.75C>A (p.Gly25=) single nucleotide variant not provided [RCV001480353] Chr2:232771288 [GRCh38]
Chr2:233635998 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.904C>T (p.Leu302=) single nucleotide variant not provided [RCV001471102] Chr2:232768370 [GRCh38]
Chr2:233633080 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.721C>T (p.Leu241=) single nucleotide variant not provided [RCV001454756] Chr2:232768553 [GRCh38]
Chr2:233633263 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.511C>A (p.Arg171Ser) single nucleotide variant not provided [RCV003108651] Chr2:232768763 [GRCh38]
Chr2:233633473 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002242.4(KCNJ13):c.124C>T (p.Arg42Ter) single nucleotide variant not provided [RCV001874094] Chr2:232771239 [GRCh38]
Chr2:233635949 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.269A>G (p.Asp90Gly) single nucleotide variant not provided [RCV001896899] Chr2:232771094 [GRCh38]
Chr2:233635804 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.559C>G (p.Leu187Val) single nucleotide variant not provided [RCV002042115] Chr2:232768715 [GRCh38]
Chr2:233633425 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.100G>A (p.Ala34Thr) single nucleotide variant not provided [RCV001908521]|not specified [RCV004927744] Chr2:232771263 [GRCh38]
Chr2:233635973 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_002242.4(KCNJ13):c.731A>T (p.Tyr244Phe) single nucleotide variant not provided [RCV001964238] Chr2:232768543 [GRCh38]
Chr2:233633253 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.654C>A (p.Tyr218Ter) single nucleotide variant not provided [RCV002041360] Chr2:232768620 [GRCh38]
Chr2:233633330 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.131C>A (p.Ala44Asp) single nucleotide variant not provided [RCV001986921] Chr2:232771232 [GRCh38]
Chr2:233635942 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.463G>A (p.Ala155Thr) single nucleotide variant not provided [RCV001894116] Chr2:232768811 [GRCh38]
Chr2:233633521 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) copy number loss not specified [RCV002053291] Chr2:228807574..235475892 [GRCh37]
Chr2:2q36.3-37.1		 pathogenic
NM_002242.4(KCNJ13):c.292A>G (p.Ile98Val) single nucleotide variant not provided [RCV001969602] Chr2:232771071 [GRCh38]
Chr2:233635781 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.154C>T (p.Arg52Cys) single nucleotide variant not provided [RCV001908906] Chr2:232771209 [GRCh38]
Chr2:233635919 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.133T>C (p.Trp45Arg) single nucleotide variant not provided [RCV001928736] Chr2:232771230 [GRCh38]
Chr2:233635940 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473) copy number loss not specified [RCV002053294] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_002242.4(KCNJ13):c.653A>G (p.Tyr218Cys) single nucleotide variant not provided [RCV002006987] Chr2:232768621 [GRCh38]
Chr2:233633331 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.143T>C (p.Leu48Pro) single nucleotide variant not provided [RCV001897812] Chr2:232771220 [GRCh38]
Chr2:233635930 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.745C>T (p.Pro249Ser) single nucleotide variant not provided [RCV002039080] Chr2:232768529 [GRCh38]
Chr2:233633239 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.838G>A (p.Glu280Lys) single nucleotide variant not provided [RCV001886919] Chr2:232768436 [GRCh38]
Chr2:233633146 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.358A>G (p.Ile120Val) single nucleotide variant not provided [RCV001943055]|not specified [RCV004043342] Chr2:232771005 [GRCh38]
Chr2:233635715 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_231033840)_(234978657_?)dup duplication Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] Chr2:231033840..234978657 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.970G>T (p.Glu324Ter) single nucleotide variant not provided [RCV001877173] Chr2:232768304 [GRCh38]
Chr2:233633014 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.143T>G (p.Leu48Arg) single nucleotide variant not provided [RCV001973837] Chr2:232771220 [GRCh38]
Chr2:233635930 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.892T>C (p.Cys298Arg) single nucleotide variant not provided [RCV001886363] Chr2:232768382 [GRCh38]
Chr2:233633092 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233164730)_(234250992_?)dup duplication not provided [RCV001989941] Chr2:233164730..234250992 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.961A>G (p.Thr321Ala) single nucleotide variant not provided [RCV001977744] Chr2:232768313 [GRCh38]
Chr2:233633023 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.774G>C (p.Gln258His) single nucleotide variant not provided [RCV001991623] Chr2:232768500 [GRCh38]
Chr2:233633210 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.869C>T (p.Pro290Leu) single nucleotide variant not provided [RCV001923566] Chr2:232768405 [GRCh38]
Chr2:233633115 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.821T>C (p.Met274Thr) single nucleotide variant not provided [RCV001924383] Chr2:232768453 [GRCh38]
Chr2:233633163 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.479T>A (p.Ile160Asn) single nucleotide variant not provided [RCV001960404] Chr2:232768795 [GRCh38]
Chr2:233633505 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.406G>A (p.Ala136Thr) single nucleotide variant not provided [RCV001897069] Chr2:232770957 [GRCh38]
Chr2:233635667 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.100G>T (p.Ala34Ser) single nucleotide variant not provided [RCV001920714] Chr2:232771263 [GRCh38]
Chr2:233635973 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV002084633] Chr2:232771123 [GRCh38]
Chr2:233635833 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.27T>A (p.Ile9=) single nucleotide variant not provided [RCV002209795] Chr2:232771336 [GRCh38]
Chr2:233636046 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.405C>A (p.Ile135=) single nucleotide variant not provided [RCV002074973] Chr2:232770958 [GRCh38]
Chr2:233635668 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.906G>A (p.Leu302=) single nucleotide variant not provided [RCV002085247] Chr2:232768368 [GRCh38]
Chr2:233633078 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.1041C>T (p.Ser347=) single nucleotide variant not provided [RCV002148151] Chr2:232768233 [GRCh38]
Chr2:233632943 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.1011T>G (p.Thr337=) single nucleotide variant not provided [RCV002172786] Chr2:232768263 [GRCh38]
Chr2:233632973 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.845G>A (p.Cys282Tyr) single nucleotide variant not provided [RCV002112763] Chr2:232768429 [GRCh38]
Chr2:233633139 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.162T>C (p.Arg54=) single nucleotide variant not provided [RCV002090485] Chr2:232771201 [GRCh38]
Chr2:233635911 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.90A>G (p.Gln30=) single nucleotide variant not provided [RCV002084330] Chr2:232771273 [GRCh38]
Chr2:233635983 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.84A>C (p.Thr28=) single nucleotide variant not provided [RCV002156731] Chr2:232771279 [GRCh38]
Chr2:233635989 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.513C>T (p.Arg171=) single nucleotide variant not provided [RCV003118011] Chr2:232768761 [GRCh38]
Chr2:233633471 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.907T>C (p.Leu303=) single nucleotide variant not provided [RCV003121608] Chr2:232768367 [GRCh38]
Chr2:233633077 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.778G>A (p.Glu260Lys) single nucleotide variant not provided [RCV002297152] Chr2:232768496 [GRCh38]
Chr2:233633206 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_002242.4(KCNJ13):c.220C>G (p.Leu74Val) single nucleotide variant not provided [RCV002304153] Chr2:232771143 [GRCh38]
Chr2:233635853 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.769C>T (p.Leu257Phe) single nucleotide variant not provided [RCV002295199] Chr2:232768505 [GRCh38]
Chr2:233633215 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.977C>T (p.Pro326Leu) single nucleotide variant not provided [RCV002295030] Chr2:232768297 [GRCh38]
Chr2:233633007 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.908T>G (p.Leu303Trp) single nucleotide variant not provided [RCV002301742] Chr2:232768366 [GRCh38]
Chr2:233633076 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.96T>A (p.Asp32Glu) single nucleotide variant not provided [RCV002302067] Chr2:232771267 [GRCh38]
Chr2:233635977 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.460+14del deletion not provided [RCV002614797] Chr2:232770889 [GRCh38]
Chr2:233635599 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.191T>C (p.Phe64Ser) single nucleotide variant not provided [RCV002843727] Chr2:232771172 [GRCh38]
Chr2:233635882 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.678T>C (p.Leu226=) single nucleotide variant not provided [RCV002862155] Chr2:232768596 [GRCh38]
Chr2:233633306 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.7A>G (p.Ser3Gly) single nucleotide variant not provided [RCV002640470] Chr2:232771356 [GRCh38]
Chr2:233636066 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.290C>T (p.Thr97Ile) single nucleotide variant not provided [RCV002910009] Chr2:232771073 [GRCh38]
Chr2:233635783 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.133T>G (p.Trp45Gly) single nucleotide variant not provided [RCV002846224] Chr2:232771230 [GRCh38]
Chr2:233635940 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.587C>T (p.Pro196Leu) single nucleotide variant not provided [RCV002820943] Chr2:232768687 [GRCh38]
Chr2:233633397 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.99C>T (p.Gly33=) single nucleotide variant not provided [RCV003052839] Chr2:232771264 [GRCh38]
Chr2:233635974 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.248G>A (p.Gly83Asp) single nucleotide variant not provided [RCV002627374] Chr2:232771115 [GRCh38]
Chr2:233635825 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.730T>C (p.Tyr244His) single nucleotide variant not provided [RCV005099878]|not specified [RCV004177974] Chr2:232768544 [GRCh38]
Chr2:233633254 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.758T>G (p.Leu253Arg) single nucleotide variant not provided [RCV002852620] Chr2:232768516 [GRCh38]
Chr2:233633226 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.596_597dup (p.Thr200Ter) duplication not provided [RCV002825730] Chr2:232768676..232768677 [GRCh38]
Chr2:233633386..233633387 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.444A>T (p.Leu148=) single nucleotide variant not provided [RCV002711517] Chr2:232770919 [GRCh38]
Chr2:233635629 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.207T>C (p.Leu69=) single nucleotide variant not provided [RCV003058763] Chr2:232771156 [GRCh38]
Chr2:233635866 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.1020T>C (p.Asp340=) single nucleotide variant not provided [RCV002644081] Chr2:232768254 [GRCh38]
Chr2:233632964 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.496C>G (p.Arg166Gly) single nucleotide variant not provided [RCV002801282] Chr2:232768778 [GRCh38]
Chr2:233633488 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.253C>G (p.Leu85Val) single nucleotide variant not provided [RCV002957515]|not specified [RCV004067213] Chr2:232771110 [GRCh38]
Chr2:233635820 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.26T>C (p.Ile9Thr) single nucleotide variant not provided [RCV002720123] Chr2:232771337 [GRCh38]
Chr2:233636047 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.860C>G (p.Ser287Cys) single nucleotide variant not provided [RCV003046014]|not specified [RCV004068655] Chr2:232768414 [GRCh38]
Chr2:233633124 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.473C>A (p.Ala158Glu) single nucleotide variant not provided [RCV002899691] Chr2:232768801 [GRCh38]
Chr2:233633511 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.564C>T (p.Ile188=) single nucleotide variant not provided [RCV003031718] Chr2:232768710 [GRCh38]
Chr2:233633420 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.152T>C (p.Met51Thr) single nucleotide variant not provided [RCV002922641] Chr2:232771211 [GRCh38]
Chr2:233635921 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.794T>C (p.Phe265Ser) single nucleotide variant not provided [RCV002959181] Chr2:232768480 [GRCh38]
Chr2:233633190 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1081T>C (p.Ter361Gln) single nucleotide variant not provided [RCV002651105] Chr2:232768193 [GRCh38]
Chr2:233632903 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV003028736] Chr2:232768577 [GRCh38]
Chr2:233633287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.411A>C (p.Leu137Phe) single nucleotide variant not provided [RCV002633883] Chr2:232770952 [GRCh38]
Chr2:233635662 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.607C>T (p.Arg203Trp) single nucleotide variant not provided [RCV002634133]|not specified [RCV004634200] Chr2:232768667 [GRCh38]
Chr2:233633377 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV003092551] Chr2:232768353 [GRCh38]
Chr2:233633063 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.630G>A (p.Gln210=) single nucleotide variant not provided [RCV002584713] Chr2:232768644 [GRCh38]
Chr2:233633354 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.146T>C (p.Met49Thr) single nucleotide variant not provided [RCV002654248]|not specified [RCV004066819] Chr2:232771217 [GRCh38]
Chr2:233635927 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.683G>C (p.Gly228Ala) single nucleotide variant not provided [RCV003050329] Chr2:232768591 [GRCh38]
Chr2:233633301 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1032T>C (p.Asn344=) single nucleotide variant not provided [RCV003072326] Chr2:232768242 [GRCh38]
Chr2:233632952 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.461-14A>G single nucleotide variant not provided [RCV003093239] Chr2:232768827 [GRCh38]
Chr2:233633537 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.93G>A (p.Met31Ile) single nucleotide variant not provided [RCV002612242] Chr2:232771270 [GRCh38]
Chr2:233635980 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3 copy number gain See cases [RCV003320003] Chr2:232563726..234136887 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.775C>G (p.His259Asp) single nucleotide variant not specified [RCV004329321] Chr2:232768499 [GRCh38]
Chr2:233633209 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3		 pathogenic
NM_002242.4(KCNJ13):c.726G>A (p.Thr242=) single nucleotide variant not provided [RCV003571895] Chr2:232768548 [GRCh38]
Chr2:233633258 [GRCh37]
Chr2:2q37.1		 likely benign
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_002242.4(KCNJ13):c.525A>G (p.Thr175=) single nucleotide variant not provided [RCV003431174] Chr2:232768749 [GRCh38]
Chr2:233633459 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.914G>A (p.Arg305Gln) single nucleotide variant not provided [RCV003440234] Chr2:232768360 [GRCh38]
Chr2:233633070 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.561T>C (p.Leu187=) single nucleotide variant not provided [RCV003693011] Chr2:232768713 [GRCh38]
Chr2:233633423 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.1044T>C (p.Ile348=) single nucleotide variant not provided [RCV003695555] Chr2:232768230 [GRCh38]
Chr2:233632940 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.656A>C (p.Gln219Pro) single nucleotide variant not provided [RCV003662931] Chr2:232768618 [GRCh38]
Chr2:233633328 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.378C>A (p.Phe126Leu) single nucleotide variant not provided [RCV003877838] Chr2:232770985 [GRCh38]
Chr2:233635695 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1002A>C (p.Pro334=) single nucleotide variant not provided [RCV003713378] Chr2:232768272 [GRCh38]
Chr2:233632982 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.461-13A>C single nucleotide variant not provided [RCV003827496] Chr2:232768826 [GRCh38]
Chr2:233633536 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.627T>C (p.Tyr209=) single nucleotide variant not provided [RCV003674472] Chr2:232768647 [GRCh38]
Chr2:233633357 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.143dup (p.Met49fs) duplication not provided [RCV003703364] Chr2:232771219..232771220 [GRCh38]
Chr2:233635929..233635930 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.511C>T (p.Arg171Cys) single nucleotide variant not provided [RCV003717730] Chr2:232768763 [GRCh38]
Chr2:233633473 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.660C>T (p.Thr220=) single nucleotide variant not provided [RCV003672177] Chr2:232768614 [GRCh38]
Chr2:233633324 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.657G>A (p.Gln219=) single nucleotide variant not provided [RCV003565896] Chr2:232768617 [GRCh38]
Chr2:233633327 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.8G>A (p.Ser3Asn) single nucleotide variant not provided [RCV003554390] Chr2:232771355 [GRCh38]
Chr2:233636065 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.542T>C (p.Met181Thr) single nucleotide variant not provided [RCV003862346] Chr2:232768732 [GRCh38]
Chr2:233633442 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.768G>C (p.Leu256=) single nucleotide variant not provided [RCV003564528] Chr2:232768506 [GRCh38]
Chr2:233633216 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.20_21del (p.Lys7fs) deletion not provided [RCV003676421] Chr2:232771342..232771343 [GRCh38]
Chr2:233636052..233636053 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.70G>T (p.Asp24Tyr) single nucleotide variant not provided [RCV003870715] Chr2:232771293 [GRCh38]
Chr2:233636003 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.696C>T (p.Asp232=) single nucleotide variant not provided [RCV003867923] Chr2:232768578 [GRCh38]
Chr2:233633288 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.529G>A (p.Val177Ile) single nucleotide variant not provided [RCV003542077] Chr2:232768745 [GRCh38]
Chr2:233633455 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.512G>A (p.Arg171His) single nucleotide variant not provided [RCV003555646] Chr2:232768762 [GRCh38]
Chr2:233633472 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.794T>A (p.Phe265Tyr) single nucleotide variant not provided [RCV003711607] Chr2:232768480 [GRCh38]
Chr2:233633190 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.594T>A (p.Pro198=) single nucleotide variant not provided [RCV003733454] Chr2:232768680 [GRCh38]
Chr2:233633390 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_001103146.3(GIGYF2):c.533-10719T>C single nucleotide variant GIGYF2-related disorder [RCV003924735] Chr2:232776431 [GRCh38]
Chr2:233641141 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.171G>A (p.Met57Ile) single nucleotide variant not specified [RCV004406213] Chr2:232771192 [GRCh38]
Chr2:233635902 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.998G>A (p.Ser333Asn) single nucleotide variant not provided [RCV005102242]|not specified [RCV004628155] Chr2:232768276 [GRCh38]
Chr2:233632986 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.264T>A (p.Asp88Glu) single nucleotide variant KCNJ13-related condition [RCV004758984] Chr2:232771099 [GRCh38]
Chr2:233635809 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.739A>C (p.Ile247Leu) single nucleotide variant not specified [RCV004927182] Chr2:232768535 [GRCh38]
Chr2:233633245 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.85C>T (p.Leu29Phe) single nucleotide variant not provided [RCV005190219] Chr2:232771278 [GRCh38]
Chr2:233635988 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.135G>C (p.Trp45Cys) single nucleotide variant not provided [RCV005132479] Chr2:232771228 [GRCh38]
Chr2:233635938 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1027A>G (p.Ile343Val) single nucleotide variant not provided [RCV005108223] Chr2:232768247 [GRCh38]
Chr2:233632957 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.980C>T (p.Thr327Ile) single nucleotide variant not provided [RCV005169093] Chr2:232768294 [GRCh38]
Chr2:233633004 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1056G>A (p.Gln352=) single nucleotide variant not provided [RCV005082558] Chr2:232768218 [GRCh38]
Chr2:233632928 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.606C>G (p.Val202=) single nucleotide variant not provided [RCV005204186] Chr2:232768668 [GRCh38]
Chr2:233633378 [GRCh37]
Chr2:2q37.1		 likely benign
NM_002242.4(KCNJ13):c.563T>A (p.Ile188Asn) single nucleotide variant not provided [RCV005140188] Chr2:232768711 [GRCh38]
Chr2:233633421 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.52C>T (p.Arg18Trp) single nucleotide variant not provided [RCV005166404] Chr2:232771311 [GRCh38]
Chr2:233636021 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.605T>C (p.Val202Ala) single nucleotide variant not provided [RCV005114352] Chr2:232768669 [GRCh38]
Chr2:233633379 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.1023C>G (p.Ile341Met) single nucleotide variant not provided [RCV005131169] Chr2:232768251 [GRCh38]
Chr2:233632961 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_002242.4(KCNJ13):c.833C>A (p.Thr278Asn) single nucleotide variant not provided [RCV005179654] Chr2:232768441 [GRCh38]
Chr2:233633151 [GRCh37]
Chr2:2q37.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:979
Count of miRNA genes:629
Interacting mature miRNAs:693
Transcripts:ENST00000233826, ENST00000409779, ENST00000410029, ENST00000438786, ENST00000444142
Prediction methods:Miranda, Rnahybrid
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
596973526GWAS1093045_Hmajor depressive disorder QTL GWAS1093045 (human)8e-10major depressive disorder2232768750232768751Human
597185484GWAS1281558_Hmajor depressive disorder QTL GWAS1281558 (human)8e-10major depressive disorder2232768750232768751Human
597074035GWAS1170109_Hcoronary artery disease QTL GWAS1170109 (human)3e-10coronary artery disease2232768750232768751Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407033705GWAS682681_Hunipolar depression QTL GWAS682681 (human)8e-10unipolar depression2232768750232768751Human

Markers in Region
D2S172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,172,579 - 231,172,831UniSTSGRCh37
GRCh372231,172,545 - 231,172,814UniSTSGRCh37
Build 362230,880,823 - 230,881,075RGDNCBI36
Celera2224,948,689 - 224,948,972UniSTS
Celera2224,948,723 - 224,948,989RGD
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2223,012,697 - 223,012,966UniSTS
HuRef2223,012,731 - 223,012,983UniSTS
Marshfield Genetic Map2235.07UniSTS
Marshfield Genetic Map2235.07RGD
Genethon Genetic Map2242.4UniSTS
TNG Radiation Hybrid Map2128513.0UniSTS
Stanford-G3 RH Map28951.0UniSTS
GeneMap99-GB4 RH Map2711.31UniSTS
Whitehead-RH Map21056.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21877.6UniSTS
GeneMap99-G3 RH Map29790.0UniSTS
RH94296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,632,950 - 233,633,085UniSTSGRCh37
Build 362233,341,194 - 233,341,329RGDNCBI36
Celera2227,397,281 - 227,397,416RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2225,482,257 - 225,482,392UniSTS
GeneMap99-GB4 RH Map2722.5UniSTS
RH94056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,631,737 - 233,631,911UniSTSGRCh37
Build 362233,339,981 - 233,340,155RGDNCBI36
Celera2227,396,068 - 227,396,242RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2225,481,044 - 225,481,218UniSTS
GeneMap99-GB4 RH Map2724.3UniSTS
KCNJ13_7654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,632,719 - 233,633,592UniSTSGRCh37
Build 362233,340,963 - 233,341,836RGDNCBI36
Celera2227,397,050 - 227,397,923RGD
HuRef2225,482,026 - 225,482,899UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1046 1930 2300 1549 4469 1448 1876 4 437 1142 281 2146 4920 4544 12 3325 742 1548 1359 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_016742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC064852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY758240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY758241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB410257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA278958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB173405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB547266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000233826   ⟹   ENSP00000233826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,765,802 - 232,776,565 (-)Ensembl
Ensembl Acc Id: ENST00000409779   ⟹   ENSP00000386408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,768,076 - 232,776,565 (-)Ensembl
Ensembl Acc Id: ENST00000410029   ⟹   ENSP00000386251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,768,140 - 232,771,405 (-)Ensembl
Ensembl Acc Id: ENST00000438786   ⟹   ENSP00000407284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,768,481 - 232,776,555 (-)Ensembl
Ensembl Acc Id: ENST00000444142   ⟹   ENSP00000416896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,768,316 - 232,771,264 (-)Ensembl
RefSeq Acc Id: NM_001172416   ⟹   NP_001165887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382232,765,802 - 232,776,565 (-)NCBI
GRCh372233,630,512 - 233,641,275 (-)ENTREZGENE
HuRef2225,479,819 - 225,490,582 (-)ENTREZGENE
CHM1_12233,636,578 - 233,647,341 (-)NCBI
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172417   ⟹   NP_001165888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382232,765,802 - 232,776,565 (-)NCBI
GRCh372233,630,512 - 233,641,275 (-)ENTREZGENE
HuRef2225,479,819 - 225,490,582 (-)ENTREZGENE
CHM1_12233,636,578 - 233,647,341 (-)NCBI
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002242   ⟹   NP_002233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382232,765,802 - 232,776,565 (-)NCBI
GRCh372233,630,512 - 233,641,275 (-)ENTREZGENE
Build 362233,339,104 - 233,349,519 (-)NCBI Archive
HuRef2225,479,819 - 225,490,582 (-)ENTREZGENE
CHM1_12233,636,578 - 233,647,341 (-)NCBI
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444253   ⟹   XP_047300209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382232,765,802 - 232,776,565 (-)NCBI
RefSeq Acc Id: XM_054341939   ⟹   XP_054197914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,252,565 - 233,263,328 (-)NCBI
RefSeq Acc Id: NP_001165888   ⟸   NM_001172417
- Peptide Label: isoform 3
- UniProtKB: O60928 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165887   ⟸   NM_001172416
- Peptide Label: isoform 2
- UniProtKB: O60928 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002233   ⟸   NM_002242
- Peptide Label: isoform 1
- UniProtKB: Q53SA1 (UniProtKB/Swiss-Prot),   O76023 (UniProtKB/Swiss-Prot),   A0PGH1 (UniProtKB/Swiss-Prot),   Q8N3Y4 (UniProtKB/Swiss-Prot),   O60928 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000407284   ⟸   ENST00000438786
Ensembl Acc Id: ENSP00000386251   ⟸   ENST00000410029
Ensembl Acc Id: ENSP00000416896   ⟸   ENST00000444142
Ensembl Acc Id: ENSP00000233826   ⟸   ENST00000233826
Ensembl Acc Id: ENSP00000386408   ⟸   ENST00000409779
RefSeq Acc Id: XP_047300209   ⟸   XM_047444253
- Peptide Label: isoform X1
- UniProtKB: Q53SA1 (UniProtKB/Swiss-Prot),   O76023 (UniProtKB/Swiss-Prot),   O60928 (UniProtKB/Swiss-Prot),   A0PGH1 (UniProtKB/Swiss-Prot),   Q8N3Y4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054197914   ⟸   XM_054341939
- Peptide Label: isoform X1
- UniProtKB: Q53SA1 (UniProtKB/Swiss-Prot),   O76023 (UniProtKB/Swiss-Prot),   O60928 (UniProtKB/Swiss-Prot),   A0PGH1 (UniProtKB/Swiss-Prot),   Q8N3Y4 (UniProtKB/Swiss-Prot)
Protein Domains
Inward rectifier potassium channel C-terminal   Potassium channel inwardly rectifying transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60928-F1-model_v2 AlphaFold O60928 1-360 view protein structure

Promoters
RGD ID:6863106
Promoter ID:EPDNEW_H4718
Type:multiple initiation site
Name:KCNJ13_1
Description:potassium voltage-gated channel subfamily J member 13
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
GRCh382232,776,565 - 232,776,625EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6259 AgrOrtholog
COSMIC KCNJ13 COSMIC
Ensembl Genes ENSG00000115474 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000233826 ENTREZGENE
  ENST00000233826.4 UniProtKB/Swiss-Prot
  ENST00000409779 ENTREZGENE
  ENST00000409779.1 UniProtKB/Swiss-Prot
  ENST00000410029.1 UniProtKB/Swiss-Prot
  ENST00000438786.1 UniProtKB/TrEMBL
  ENST00000444142.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115474 GTEx
HGNC ID HGNC:6259 ENTREZGENE
Human Proteome Map KCNJ13 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNJ13 UniProtKB/Swiss-Prot
  Kir_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3769 UniProtKB/Swiss-Prot
NCBI Gene 3769 ENTREZGENE
OMIM 603208 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11767:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30044 PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot
PRINTS KIR7CHANNEL UniProtKB/Swiss-Prot
  KIRCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0PGH1 ENTREZGENE
  C9JWD6_HUMAN UniProtKB/TrEMBL
  H7C4D1_HUMAN UniProtKB/TrEMBL
  KCJ13_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O76023 ENTREZGENE
  Q53SA1 ENTREZGENE
  Q8N3Y4 ENTREZGENE
UniProt Secondary A0PGH1 UniProtKB/Swiss-Prot
  O76023 UniProtKB/Swiss-Prot
  Q53SA1 UniProtKB/Swiss-Prot
  Q8N3Y4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ13  potassium inwardly rectifying channel subfamily J member 13  KCNJ13  potassium voltage-gated channel subfamily J member 13  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ13  potassium voltage-gated channel subfamily J member 13    potassium channel, inwardly rectifying subfamily J, member 13  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ13  potassium channel, inwardly rectifying subfamily J, member 13    potassium inwardly-rectifying channel, subfamily J, member 13  Symbol and/or name change 5135510 APPROVED