SLC25A19 (solute carrier family 25 member 19) - Rat Genome Database

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Gene: SLC25A19 (solute carrier family 25 member 19) Homo sapiens
Analyze
Symbol: SLC25A19
Name: solute carrier family 25 member 19
RGD ID: 1343771
HGNC Page HGNC:14409
Description: Enables thiamine pyrophosphate transmembrane transporter activity. Involved in thiamine pyrophosphate transmembrane transport. Located in mitochondrion. Implicated in inherited metabolic disorder and microcephaly.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Deoxynucleotide carrier; DNC; MCPHA; microcephaly, Amish; mitochondrial thiamine pyrophosphate carrier; mitochondrial thiamine pyrophosphate transporter; mitochondrial uncoupling protein 1; MTPPT; MUP1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; THMD3; THMD4; TPC
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
GRCh381775,272,992 - 75,289,433 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,272,981 - 75,289,510 (-)EnsemblGRCh38hg38GRCh38
GRCh371773,269,073 - 73,285,514 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,780,669 - 70,797,109 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,780,668 - 70,797,109NCBI
Celera1769,861,413 - 69,877,887 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,679,265 - 68,696,066 (-)NCBIHuRef
CHM1_11773,333,658 - 73,350,100 (-)NCBICHM1_1
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
artesunate  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dioxygen  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
indinavir  (EXP)
lamivudine  (EXP,ISO)
leflunomide  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (ISO)
methcathinone  (EXP)
N-methylformamide  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
resveratrol  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
stavudine  (EXP)
streptozocin  (EXP,ISO)
temozolomide  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zidovudine  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Agenesis of corpus callosum  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Cleft soft palate  (IAGP)
Congenital onset  (IAGP)
Death in infancy  (IAGP)
Decreased fetal movement  (IAGP)
Decreased skull ossification  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Hepatomegaly  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Lethargy  (IAGP)
Limb hypertonia  (IAGP)
Limitation of joint mobility  (IAGP)
Lissencephaly  (IAGP)
Lower-limb joint contracture  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Optic atrophy  (IAGP)
Organic aciduria  (IAGP)
Osteoporosis  (IAGP)
Paralysis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Poor suck  (IAGP)
Primary microcephaly  (IAGP)
Second trimester onset  (IAGP)
Severe global developmental delay  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sloping forehead  (IAGP)
Small anterior fontanelle  (IAGP)
Spina bifida  (IAGP)
Talipes equinovarus  (IAGP)
Temperature instability  (IAGP)
Ventriculomegaly  (IAGP)
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
6. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Rosenberg MJ, etal., Nat Genet. 2002 Sep;32(1):175-9. Epub 2002 Aug 19.
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:11226231   PMID:11474176   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15539640   PMID:16303743   PMID:16344560   PMID:17035501   PMID:18280798  
PMID:19798730   PMID:20301539   PMID:20877624   PMID:21630459   PMID:21873635   PMID:22020285   PMID:22658674   PMID:23266187   PMID:23642734   PMID:23872534   PMID:26316591   PMID:26496610  
PMID:27188525   PMID:27432908   PMID:27499296   PMID:28729247   PMID:28986522   PMID:29509794   PMID:29615496   PMID:31056421   PMID:31091453   PMID:31506564   PMID:31586073   PMID:31594818  
PMID:31617661   PMID:31753913   PMID:32628020   PMID:33001583   PMID:33961781   PMID:34373451   PMID:34587972   PMID:34800366   PMID:35102031   PMID:35844135   PMID:35941108   PMID:36114006  
PMID:36217030   PMID:36244648   PMID:36538041   PMID:36897256   PMID:37314216   PMID:37317656   PMID:37529835   PMID:37827155   PMID:38113892   PMID:38697112   PMID:38944213   PMID:39231216  


Genomics

Comparative Map Data
SLC25A19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,272,992 - 75,289,433 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,272,981 - 75,289,510 (-)EnsemblGRCh38hg38GRCh38
GRCh371773,269,073 - 73,285,514 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,780,669 - 70,797,109 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,780,668 - 70,797,109NCBI
Celera1769,861,413 - 69,877,887 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,679,265 - 68,696,066 (-)NCBIHuRef
CHM1_11773,333,658 - 73,350,100 (-)NCBICHM1_1
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBIT2T-CHM13v2.0
Slc25a19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,504,991 - 115,519,122 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,505,004 - 115,519,121 (-)EnsemblGRCm39 Ensembl
GRCm3811115,614,165 - 115,628,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,614,178 - 115,628,295 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,476,297 - 115,489,453 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,431,073 - 115,444,229 (-)NCBIMGSCv36mm8
Celera11127,382,733 - 127,395,903 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.91NCBI
Slc25a19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,353,426 - 101,366,551 (-)NCBIGRCr8
mRatBN7.210100,853,554 - 100,867,517 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10100,847,168 - 100,867,447 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10105,914,684 - 105,927,637 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,377,757 - 105,390,710 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,775,447 - 100,788,372 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010104,166,594 - 104,179,523 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,166,598 - 104,179,523 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010104,101,681 - 104,114,610 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,694,526 - 105,707,452 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110105,709,029 - 105,721,956 (-)NCBI
Celera1099,428,914 - 99,441,839 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Slc25a19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555532,134,715 - 2,160,777 (-)NCBIChiLan1.0ChiLan1.0
SLC25A19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21991,312,529 - 91,329,536 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11796,135,619 - 96,152,601 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01769,220,073 - 69,237,067 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11774,773,341 - 74,789,700 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1774,773,341 - 74,789,699 (-)Ensemblpanpan1.1panPan2
SLC25A19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.195,208,982 - 5,226,925 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl95,209,059 - 5,226,569 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,888,236 - 5,905,909 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.095,879,063 - 5,896,973 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl95,879,117 - 5,896,971 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.195,917,854 - 5,935,745 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,028,083 - 6,045,961 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,087,988 - 6,105,697 (+)NCBIUU_Cfam_GSD_1.0
Slc25a19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,841,303 - 5,854,135 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936594557,823 - 570,599 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,033,669 - 6,046,763 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,033,605 - 6,045,435 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,824,120 - 5,835,897 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,380,665 - 46,403,532 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,381,271 - 46,403,360 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607717,150,051 - 17,169,518 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc25a19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248015,086,925 - 5,114,171 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC25A19
173 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001126121.2(SLC25A19):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV000523617] Chr17:75277399 [GRCh38]
Chr17:73273480 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser) single nucleotide variant Amish lethal microcephaly [RCV001847622]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000023554] Chr17:75283509 [GRCh38]
Chr17:73279590 [GRCh37]
Chr17:17q25.1		 pathogenic|not provided
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala) single nucleotide variant Amish lethal microcephaly [RCV000004490] Chr17:75278265 [GRCh38]
Chr17:73274346 [GRCh37]
Chr17:17q25.1		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.332G>A (p.Ser111Asn) single nucleotide variant Inborn genetic diseases [RCV004965274]|not provided [RCV000118367] Chr17:75283550 [GRCh38]
Chr17:73279631 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=) single nucleotide variant not specified [RCV000118369] Chr17:75283468 [GRCh38]
Chr17:73279549 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) single nucleotide variant Amish lethal microcephaly [RCV000398031]|Inborn genetic diseases [RCV002514439]|not provided [RCV000713308] Chr17:75278173 [GRCh38]
Chr17:73274254 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*2T>C single nucleotide variant Amish lethal microcephaly [RCV000327662]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807078]|not provided [RCV000676626]|not specified [RCV000118365] Chr17:75273449 [GRCh38]
Chr17:73269530 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.146G>A (p.Arg49His) single nucleotide variant not provided [RCV000118366] Chr17:75286446 [GRCh38]
Chr17:73282527 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) single nucleotide variant Amish lethal microcephaly [RCV000334842]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807079]|not provided [RCV000676629]|not specified [RCV000118368] Chr17:75283543 [GRCh38]
Chr17:73279624 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) single nucleotide variant SLC25A19-related disorder [RCV003905128]|not provided [RCV000725778]|not specified [RCV000118370] Chr17:75277377 [GRCh38]
Chr17:73273458 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) single nucleotide variant Amish lethal microcephaly [RCV000282825]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807080]|not provided [RCV000676627]|not specified [RCV000118371] Chr17:75273595 [GRCh38]
Chr17:73269676 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.-38-18C>T single nucleotide variant not specified [RCV000602797] Chr17:75286820 [GRCh38]
Chr17:73282901 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.287A>G (p.Gln96Arg) single nucleotide variant not provided [RCV001310379] Chr17:75286305 [GRCh38]
Chr17:73282386 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys) single nucleotide variant not provided [RCV000171266] Chr17:75278290 [GRCh38]
Chr17:73274371 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) single nucleotide variant Amish lethal microcephaly [RCV000286760]|not provided [RCV000756637]|not specified [RCV000179519] Chr17:75278312 [GRCh38]
Chr17:73274393 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln) single nucleotide variant Amish lethal microcephaly [RCV001331197]|not provided [RCV001863237] Chr17:75273635 [GRCh38]
Chr17:73269716 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.591C>G (p.Ser197Arg) single nucleotide variant not provided [RCV001853111]|not specified [RCV000192576] Chr17:75278204 [GRCh38]
Chr17:73274285 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) single nucleotide variant Amish lethal microcephaly [RCV000356684]|not provided [RCV000178331] Chr17:75286457 [GRCh38]
Chr17:73282538 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) single nucleotide variant Amish lethal microcephaly [RCV000765393]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001542329]|not provided [RCV000724318] Chr17:75278205 [GRCh38]
Chr17:73274286 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) single nucleotide variant Inborn genetic diseases [RCV004020148]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003333036]|not provided [RCV000179520] Chr17:75278230 [GRCh38]
Chr17:73274311 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.789G>C (p.Lys263Asn) single nucleotide variant not specified [RCV000193199] Chr17:75273625 [GRCh38]
Chr17:73269706 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.610A>C (p.Lys204Gln) single nucleotide variant Inborn genetic diseases [RCV003166008]|not provided [RCV000756638] Chr17:75278185 [GRCh38]
Chr17:73274266 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000578249] Chr17:75286352 [GRCh38]
Chr17:73282433 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) single nucleotide variant Amish lethal microcephaly [RCV000340152]|SLC25A19-related disorder [RCV003930038]|not provided [RCV000838506]|not specified [RCV000388085] Chr17:75273617 [GRCh38]
Chr17:73269698 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.341A>G (p.Asp114Gly) single nucleotide variant not provided [RCV000521600] Chr17:75283541 [GRCh38]
Chr17:73279622 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.246C>T (p.His82=) single nucleotide variant Amish lethal microcephaly [RCV000299698]|not provided [RCV003698766]|not specified [RCV000607404] Chr17:75286346 [GRCh38]
Chr17:73282427 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001126121.2(SLC25A19):c.-155T>G single nucleotide variant Amish lethal microcephaly [RCV000312441]|not provided [RCV001709597] Chr17:75289380 [GRCh38]
Chr17:73285461 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.*437T>G single nucleotide variant Amish lethal microcephaly [RCV000275329]|not provided [RCV004709742] Chr17:75273014 [GRCh38]
Chr17:73269095 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_021734.4(SLC25A19):c.-201T>A single nucleotide variant Amish lethal microcephaly [RCV000277553] Chr17:75289442 [GRCh38]
Chr17:73285523 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001126121.2(SLC25A19):c.-173AG[2] microsatellite Amish lethal microcephaly [RCV000369527]|not provided [RCV001696211] Chr17:75289391..75289394 [GRCh38]
Chr17:73285472..73285475 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln) single nucleotide variant Amish lethal microcephaly [RCV000401790]|Inborn genetic diseases [RCV003168481]|not provided [RCV000897558] Chr17:75283558 [GRCh38]
Chr17:73279639 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001126121.2(SLC25A19):c.*113G>C single nucleotide variant Amish lethal microcephaly [RCV000288974] Chr17:75273338 [GRCh38]
Chr17:73269419 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*200G>A single nucleotide variant Amish lethal microcephaly [RCV000380971]|not provided [RCV001590962] Chr17:75273251 [GRCh38]
Chr17:73269332 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001126121.2(SLC25A19):c.*274C>G single nucleotide variant Amish lethal microcephaly [RCV000333409]|not provided [RCV001636917] Chr17:75273177 [GRCh38]
Chr17:73269258 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.20A>G (p.Lys7Arg) single nucleotide variant Amish lethal microcephaly [RCV000398797]|Inborn genetic diseases [RCV004021711]|not provided [RCV000808854] Chr17:75286745 [GRCh38]
Chr17:73282826 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) single nucleotide variant Amish lethal microcephaly [RCV001125509]|not provided [RCV000725746]|not specified [RCV000370983] Chr17:75278291 [GRCh38]
Chr17:73274372 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu) single nucleotide variant Amish lethal microcephaly [RCV000384560] Chr17:75273484 [GRCh38]
Chr17:73269565 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.288+8G>C single nucleotide variant Amish lethal microcephaly [RCV001125511]|SLC25A19-related disorder [RCV003905577]|not provided [RCV000967667]|not specified [RCV000604537] Chr17:75286296 [GRCh38]
Chr17:73282377 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=) single nucleotide variant not provided [RCV000598179] Chr17:75278231 [GRCh38]
Chr17:73274312 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) single nucleotide variant Amish lethal microcephaly [RCV001127608]|not provided [RCV000733201] Chr17:75286672 [GRCh38]
Chr17:73282753 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) single nucleotide variant Amish lethal microcephaly [RCV001335105]|SLC25A19-related disorder [RCV003908045]|not provided [RCV000732359] Chr17:75273572 [GRCh38]
Chr17:73269653 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126121.2(SLC25A19):c.125G>A (p.Arg42His) single nucleotide variant not provided [RCV000757770] Chr17:75286640 [GRCh38]
Chr17:73282721 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=) single nucleotide variant SLC25A19-related disorder [RCV003970226]|not provided [RCV000676628] Chr17:75278228 [GRCh38]
Chr17:73274309 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.642T>C (p.Asn214=) single nucleotide variant Amish lethal microcephaly [RCV001125508]|not provided [RCV000960634] Chr17:75278153 [GRCh38]
Chr17:73274234 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001126121.2(SLC25A19):c.460-14G>A single nucleotide variant not provided [RCV002521604]|not specified [RCV000424914] Chr17:75278349 [GRCh38]
Chr17:73274430 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.133-5C>T single nucleotide variant not provided [RCV002522453]|not specified [RCV000430480] Chr17:75286464 [GRCh38]
Chr17:73282545 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.918C>T (p.Phe306=) single nucleotide variant not provided [RCV002527287]|not specified [RCV000501844] Chr17:75273496 [GRCh38]
Chr17:73269577 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala) single nucleotide variant Amish lethal microcephaly [RCV000765394]|not provided [RCV001591143]|not specified [RCV000499875] Chr17:75286692 [GRCh38]
Chr17:73282773 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001126121.2(SLC25A19):c.194C>T (p.Ala65Val) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656118] Chr17:75286398 [GRCh38]
Chr17:73282479 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.550G>C (p.Ala184Pro) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656121] Chr17:75278245 [GRCh38]
Chr17:73274326 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.761C>T (p.Ala254Val) single nucleotide variant Inborn genetic diseases [RCV002532630]|not provided [RCV000595168] Chr17:75277366 [GRCh38]
Chr17:73273447 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.775-11C>T single nucleotide variant not specified [RCV000601568] Chr17:75273650 [GRCh38]
Chr17:73269731 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.454C>A (p.Pro152Thr) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656119] Chr17:75283428 [GRCh38]
Chr17:73279509 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.561C>G (p.Pro187=) single nucleotide variant not specified [RCV000606787] Chr17:75278234 [GRCh38]
Chr17:73274315 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.744G>C (p.Gly248=) single nucleotide variant not specified [RCV000602324] Chr17:75277383 [GRCh38]
Chr17:73273464 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.644-17C>T single nucleotide variant not specified [RCV000607833] Chr17:75277500 [GRCh38]
Chr17:73273581 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.643+19G>A single nucleotide variant not provided [RCV002064092]|not specified [RCV000608173] Chr17:75278133 [GRCh38]
Chr17:73274214 [GRCh37]
Chr17:17q25.1		 benign|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3 copy number gain not provided [RCV000585184] Chr17:72901452..73518861 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656120]|not provided [RCV001310378] Chr17:75278314 [GRCh38]
Chr17:73274395 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3 copy number gain not provided [RCV000683960] Chr17:72962625..73281784 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3 copy number gain not provided [RCV000683961] Chr17:73057756..73429731 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:73230856-73323772)x3 copy number gain not provided [RCV000739670] Chr17:73230856..73323772 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.775-1G>C single nucleotide variant Amish lethal microcephaly [RCV000853269] Chr17:75273640 [GRCh38]
Chr17:73269721 [GRCh37]
Chr17:17q25.1		 pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_001126121.2(SLC25A19):c.775-122_775-121insAATAG insertion not provided [RCV001551640] Chr17:75273760..75273761 [GRCh38]
Chr17:73269841..73269842 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.906G>A (p.Ser302=) single nucleotide variant not provided [RCV000967467] Chr17:75273508 [GRCh38]
Chr17:73269589 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His) single nucleotide variant Amish lethal microcephaly [RCV001127607]|not provided [RCV000963519] Chr17:75286437 [GRCh38]
Chr17:73282518 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001126121.2(SLC25A19):c.774+131C>G single nucleotide variant not provided [RCV000835603] Chr17:75277222 [GRCh38]
Chr17:73273303 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:73281505-73443727)x3 copy number gain not provided [RCV000847288] Chr17:73281505..73443727 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.-170G>A single nucleotide variant Amish lethal microcephaly [RCV001127609] Chr17:75289395 [GRCh38]
Chr17:73285476 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*292A>G single nucleotide variant Amish lethal microcephaly [RCV001123394] Chr17:75273159 [GRCh38]
Chr17:73269240 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.289-267T>C single nucleotide variant not provided [RCV001708385] Chr17:75283860 [GRCh38]
Chr17:73279941 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.-38-79G>T single nucleotide variant not provided [RCV001667140] Chr17:75286881 [GRCh38]
Chr17:73282962 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.460-31G>C single nucleotide variant not provided [RCV001593802] Chr17:75278366 [GRCh38]
Chr17:73274447 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.-128-81dup duplication not provided [RCV001714291] Chr17:75288654..75288655 [GRCh38]
Chr17:73284735..73284736 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.460-199A>G single nucleotide variant not provided [RCV001651920] Chr17:75278534 [GRCh38]
Chr17:73274615 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.-128-64del deletion not provided [RCV001570587] Chr17:75288655 [GRCh38]
Chr17:73284736 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.289-26G>A single nucleotide variant Amish lethal microcephaly [RCV001807517]|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807518]|not provided [RCV001716735] Chr17:75283619 [GRCh38]
Chr17:73279700 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.643+52A>G single nucleotide variant not provided [RCV001716757] Chr17:75278100 [GRCh38]
Chr17:73274181 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met) single nucleotide variant Amish lethal microcephaly [RCV000853268] Chr17:75278325 [GRCh38]
Chr17:73274406 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_001126121.2(SLC25A19):c.75T>G (p.Ser25=) single nucleotide variant not provided [RCV000929328] Chr17:75286690 [GRCh38]
Chr17:73282771 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.879C>T (p.Ala293=) single nucleotide variant not provided [RCV000933029] Chr17:75273535 [GRCh38]
Chr17:73269616 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.570G>A (p.Gly190=) single nucleotide variant not provided [RCV000943441] Chr17:75278225 [GRCh38]
Chr17:73274306 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.-128-95G>T single nucleotide variant not provided [RCV001677117] Chr17:75288686 [GRCh38]
Chr17:73284767 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1		 pathogenic
GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3 copy number gain not provided [RCV001006917] Chr17:72945415..73414786 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.-128-81_-128-80dup duplication not provided [RCV001621769] Chr17:75288654..75288655 [GRCh38]
Chr17:73284735..73284736 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.288+179G>A single nucleotide variant not provided [RCV001722980] Chr17:75286125 [GRCh38]
Chr17:73282206 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.132+78G>A single nucleotide variant not provided [RCV001714265] Chr17:75286555 [GRCh38]
Chr17:73282636 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.775-131AATAA[3] microsatellite not provided [RCV001637828] Chr17:75273760..75273761 [GRCh38]
Chr17:73269841..73269842 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.*384C>T single nucleotide variant Amish lethal microcephaly [RCV001123392] Chr17:75273067 [GRCh38]
Chr17:73269148 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*301C>T single nucleotide variant Amish lethal microcephaly [RCV001123393] Chr17:75273150 [GRCh38]
Chr17:73269231 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.476G>A (p.Arg159His) single nucleotide variant Amish lethal microcephaly [RCV001125510]|not provided [RCV001345135] Chr17:75278319 [GRCh38]
Chr17:73274400 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*164G>A single nucleotide variant Amish lethal microcephaly [RCV001124497] Chr17:75273287 [GRCh38]
Chr17:73269368 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.*96G>C single nucleotide variant Amish lethal microcephaly [RCV001124498]|not provided [RCV001570238] Chr17:75273355 [GRCh38]
Chr17:73269436 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.459+22C>T single nucleotide variant not provided [RCV001587681] Chr17:75283401 [GRCh38]
Chr17:73279482 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001126121.2(SLC25A19):c.460-142C>T single nucleotide variant not provided [RCV001714313] Chr17:75278477 [GRCh38]
Chr17:73274558 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:73218219-73443987)x3 copy number gain not provided [RCV001006918] Chr17:73218219..73443987 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*408C>T single nucleotide variant Amish lethal microcephaly [RCV001123391] Chr17:75273043 [GRCh38]
Chr17:73269124 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.289-304G>A single nucleotide variant not provided [RCV001581649] Chr17:75283897 [GRCh38]
Chr17:73279978 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.346C>T (p.Arg116Trp) single nucleotide variant Inborn genetic diseases [RCV002568003]|not provided [RCV001508995] Chr17:75283536 [GRCh38]
Chr17:73279617 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.362A>G (p.His121Arg) single nucleotide variant Inborn genetic diseases [RCV002568002]|not provided [RCV001508994] Chr17:75283520 [GRCh38]
Chr17:73279601 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.774+129T>C single nucleotide variant not provided [RCV001653327] Chr17:75277224 [GRCh38]
Chr17:73273305 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.643+18C>T single nucleotide variant not provided [RCV001512149] Chr17:75278134 [GRCh38]
Chr17:73274215 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.288+86G>A single nucleotide variant not provided [RCV001714264] Chr17:75286218 [GRCh38]
Chr17:73282299 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.460-88dup duplication not provided [RCV001618018] Chr17:75278419..75278420 [GRCh38]
Chr17:73274500..73274501 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.-129+101C>G single nucleotide variant not provided [RCV001652513] Chr17:75289253 [GRCh38]
Chr17:73285334 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.289-276_289-275del deletion not provided [RCV001612382] Chr17:75283868..75283869 [GRCh38]
Chr17:73279949..73279950 [GRCh37]
Chr17:17q25.1		 benign
NM_001126121.2(SLC25A19):c.428G>A (p.Arg143His) single nucleotide variant not provided [RCV001869724]|not specified [RCV001820429] Chr17:75283454 [GRCh38]
Chr17:73279535 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.497A>T (p.Tyr166Phe) single nucleotide variant not provided [RCV001874986] Chr17:75278298 [GRCh38]
Chr17:73274379 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3 copy number gain not provided [RCV001827813] Chr17:73045938..73310951 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73049227-73533226) copy number loss not specified [RCV002052605] Chr17:73049227..73533226 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.727C>T (p.Arg243Trp) single nucleotide variant Inborn genetic diseases [RCV002569181]|not provided [RCV001985717] Chr17:75277400 [GRCh38]
Chr17:73273481 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.541A>G (p.Thr181Ala) single nucleotide variant not provided [RCV001927452] Chr17:75278254 [GRCh38]
Chr17:73274335 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_73204602)_(73515148_?)dup duplication not provided [RCV001888427] Chr17:73204602..73515148 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.635A>G (p.Lys212Arg) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003147727]|not provided [RCV002000395] Chr17:75278160 [GRCh38]
Chr17:73274241 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.644-3C>A single nucleotide variant not provided [RCV001900956] Chr17:75277486 [GRCh38]
Chr17:73273567 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.685A>C (p.Ile229Leu) single nucleotide variant not provided [RCV001978976] Chr17:75277442 [GRCh38]
Chr17:73273523 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.207T>C (p.Ile69=) single nucleotide variant not provided [RCV002145308] Chr17:75286385 [GRCh38]
Chr17:73282466 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.484G>A (p.Val162Met) single nucleotide variant SLC25A19-related disorder [RCV003958804]|not provided [RCV002150412] Chr17:75278311 [GRCh38]
Chr17:73274392 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_001126121.2(SLC25A19):c.133-8A>G single nucleotide variant not provided [RCV003666161] Chr17:75286467 [GRCh38]
Chr17:73282548 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264842] Chr17:75278219 [GRCh38]
Chr17:73274300 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.76G>A (p.Gly26Arg) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264845] Chr17:75286689 [GRCh38]
Chr17:73282770 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.869T>A (p.Leu290Gln) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264843] Chr17:75273545 [GRCh38]
Chr17:73269626 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264844] Chr17:75277382 [GRCh38]
Chr17:73273463 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.910G>A (p.Glu304Lys) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264846] Chr17:75273504 [GRCh38]
Chr17:73269585 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001126121.2(SLC25A19):c.406G>A (p.Val136Met) single nucleotide variant Inborn genetic diseases [RCV003257795] Chr17:75283476 [GRCh38]
Chr17:73279557 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.91G>T (p.Ala31Ser) single nucleotide variant not provided [RCV002842160] Chr17:75286674 [GRCh38]
Chr17:73282755 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.550G>A (p.Ala184Thr) single nucleotide variant not provided [RCV002615828] Chr17:75278245 [GRCh38]
Chr17:73274326 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.487G>A (p.Gly163Arg) single nucleotide variant Inborn genetic diseases [RCV002686958] Chr17:75278308 [GRCh38]
Chr17:73274389 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.62C>A (p.Ala21Asp) single nucleotide variant not provided [RCV002750855] Chr17:75286703 [GRCh38]
Chr17:73282784 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.459+4A>G single nucleotide variant not provided [RCV002871480] Chr17:75283419 [GRCh38]
Chr17:73279500 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.838G>A (p.Gly280Ser) single nucleotide variant not provided [RCV002621774] Chr17:75273576 [GRCh38]
Chr17:73269657 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.939G>T (p.Met313Ile) single nucleotide variant not provided [RCV002820701] Chr17:75273475 [GRCh38]
Chr17:73269556 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.154C>T (p.Arg52Cys) single nucleotide variant Inborn genetic diseases [RCV002640291]|not provided [RCV002638080] Chr17:75286438 [GRCh38]
Chr17:73282519 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.133-1G>T single nucleotide variant not provided [RCV002820854] Chr17:75286460 [GRCh38]
Chr17:73282541 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.66G>T (p.Gly22=) single nucleotide variant not provided [RCV003078806] Chr17:75286699 [GRCh38]
Chr17:73282780 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.111C>T (p.Asp37=) single nucleotide variant not provided [RCV003077320] Chr17:75286654 [GRCh38]
Chr17:73282735 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.476_477delinsTT (p.Arg159Leu) indel not provided [RCV002791388] Chr17:75278318..75278319 [GRCh38]
Chr17:73274399..73274400 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.288+5del deletion not provided [RCV002573089] Chr17:75286299 [GRCh38]
Chr17:73282380 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.342C>T (p.Asp114=) single nucleotide variant not provided [RCV002572510] Chr17:75283540 [GRCh38]
Chr17:73279621 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.460-20A>T single nucleotide variant not provided [RCV002893886] Chr17:75278355 [GRCh38]
Chr17:73274436 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.379C>T (p.Leu127=) single nucleotide variant not provided [RCV002829377] Chr17:75283503 [GRCh38]
Chr17:73279584 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.477C>T (p.Arg159=) single nucleotide variant not provided [RCV002766784] Chr17:75278318 [GRCh38]
Chr17:73274399 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.219G>A (p.Glu73=) single nucleotide variant not provided [RCV003064936] Chr17:75286373 [GRCh38]
Chr17:73282454 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.181G>A (p.Gly61Ser) single nucleotide variant not provided [RCV002810618] Chr17:75286411 [GRCh38]
Chr17:73282492 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.774+7C>T single nucleotide variant not provided [RCV003089520] Chr17:75277346 [GRCh38]
Chr17:73273427 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.550G>T (p.Ala184Ser) single nucleotide variant not provided [RCV002716384] Chr17:75278245 [GRCh38]
Chr17:73274326 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.145C>T (p.Arg49Cys) single nucleotide variant not provided [RCV002646032] Chr17:75286447 [GRCh38]
Chr17:73282528 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.460-17T>C single nucleotide variant not provided [RCV002630625] Chr17:75278352 [GRCh38]
Chr17:73274433 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.343G>A (p.Ala115Thr) single nucleotide variant not provided [RCV002988764] Chr17:75283539 [GRCh38]
Chr17:73279620 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.905C>T (p.Ser302Leu) single nucleotide variant Inborn genetic diseases [RCV002719848] Chr17:75273509 [GRCh38]
Chr17:73269590 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.628G>A (p.Glu210Lys) single nucleotide variant not provided [RCV002578431] Chr17:75278167 [GRCh38]
Chr17:73274248 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.792C>T (p.Gly264=) single nucleotide variant not provided [RCV003030986] Chr17:75273622 [GRCh38]
Chr17:73269703 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.235T>C (p.Trp79Arg) single nucleotide variant not provided [RCV002937372] Chr17:75286357 [GRCh38]
Chr17:73282438 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.511C>A (p.Pro171Thr) single nucleotide variant Inborn genetic diseases [RCV002631802]|not provided [RCV002631801] Chr17:75278284 [GRCh38]
Chr17:73274365 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.333C>T (p.Ser111=) single nucleotide variant SLC25A19-related disorder [RCV003946342]|not provided [RCV002647751] Chr17:75283549 [GRCh38]
Chr17:73279630 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV002716648] Chr17:75286710 [GRCh38]
Chr17:73282791 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.571C>T (p.Leu191=) single nucleotide variant not provided [RCV003088654] Chr17:75278224 [GRCh38]
Chr17:73274305 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.288+19G>C single nucleotide variant not provided [RCV002671972] Chr17:75286285 [GRCh38]
Chr17:73282366 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.108C>T (p.Phe36=) single nucleotide variant not provided [RCV002647354] Chr17:75286657 [GRCh38]
Chr17:73282738 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.905C>G (p.Ser302Trp) single nucleotide variant Inborn genetic diseases [RCV002722746] Chr17:75273509 [GRCh38]
Chr17:73269590 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.247G>A (p.Val83Ile) single nucleotide variant Inborn genetic diseases [RCV002655530] Chr17:75286345 [GRCh38]
Chr17:73282426 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.239A>C (p.Lys80Thr) single nucleotide variant Inborn genetic diseases [RCV002814027] Chr17:75286353 [GRCh38]
Chr17:73282434 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV002603494] Chr17:75273609 [GRCh38]
Chr17:73269690 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.959G>A (p.Arg320His) single nucleotide variant not provided [RCV003070310] Chr17:75273455 [GRCh38]
Chr17:73269536 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1 copy number loss not provided [RCV003222940] Chr17:72864876..73328878 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.467A>G (p.Asn156Ser) single nucleotide variant Inborn genetic diseases [RCV003197219] Chr17:75278328 [GRCh38]
Chr17:73274409 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.115A>T (p.Ile39Phe) single nucleotide variant not provided [RCV003136741] Chr17:75286650 [GRCh38]
Chr17:73282731 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.433C>A (p.Arg145Ser) single nucleotide variant not provided [RCV003136742] Chr17:75283449 [GRCh38]
Chr17:73279530 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3 copy number gain not provided [RCV003485164] Chr17:73264158..74039659 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3 copy number gain not provided [RCV003485163] Chr17:73259444..73533226 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.644-18C>A single nucleotide variant not provided [RCV003576692] Chr17:75277501 [GRCh38]
Chr17:73273582 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.480C>T (p.His160=) single nucleotide variant not provided [RCV003575756] Chr17:75278315 [GRCh38]
Chr17:73274396 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.708G>A (p.Pro236=) single nucleotide variant not provided [RCV003562004] Chr17:75277419 [GRCh38]
Chr17:73273500 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.489G>A (p.Gly163=) single nucleotide variant not provided [RCV003670508] Chr17:75278306 [GRCh38]
Chr17:73274387 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.549C>T (p.Ile183=) single nucleotide variant not provided [RCV003557884] Chr17:75278246 [GRCh38]
Chr17:73274327 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.60G>A (p.Val20=) single nucleotide variant not provided [RCV003558893] Chr17:75286705 [GRCh38]
Chr17:73282786 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.460-15C>G single nucleotide variant not provided [RCV003564652] Chr17:75278350 [GRCh38]
Chr17:73274431 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.317T>C (p.Leu106Pro) single nucleotide variant not provided [RCV003718790] Chr17:75283565 [GRCh38]
Chr17:73279646 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1 copy number loss not specified [RCV003987262] Chr17:73281839..73568196 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.311C>T (p.Thr104Met) single nucleotide variant not provided [RCV003738585] Chr17:75283571 [GRCh38]
Chr17:73279652 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.775-6C>T single nucleotide variant not provided [RCV003845717] Chr17:75273645 [GRCh38]
Chr17:73269726 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3 copy number gain not specified [RCV003987236] Chr17:72875847..73484159 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.774+8G>A single nucleotide variant not provided [RCV003735755] Chr17:75277345 [GRCh38]
Chr17:73273426 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.132+13T>C single nucleotide variant not provided [RCV003731291] Chr17:75286620 [GRCh38]
Chr17:73282701 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.*4C>T single nucleotide variant SLC25A19-related disorder [RCV003942255] Chr17:75273447 [GRCh38]
Chr17:73269528 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.890G>T (p.Gly297Val) single nucleotide variant Inborn genetic diseases [RCV004456430] Chr17:75273524 [GRCh38]
Chr17:73269605 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.616G>C (p.Ala206Pro) single nucleotide variant Inborn genetic diseases [RCV004456429] Chr17:75278179 [GRCh38]
Chr17:73274260 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.224C>T (p.Pro75Leu) single nucleotide variant not provided [RCV004794315] Chr17:75286368 [GRCh38]
Chr17:73282449 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.*2_*3inv inversion not provided [RCV004997777] Chr17:75273448..75273449 [GRCh38]
Chr17:73269529..73269530 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001126121.2(SLC25A19):c.240A>G (p.Lys80=) single nucleotide variant not provided [RCV005176140] Chr17:75286352 [GRCh38]
Chr17:73282433 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.558C>T (p.Phe186=) single nucleotide variant not provided [RCV005184763] Chr17:75278237 [GRCh38]
Chr17:73274318 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.289-14A>C single nucleotide variant not provided [RCV005197504] Chr17:75283607 [GRCh38]
Chr17:73279688 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.915C>T (p.Phe305=) single nucleotide variant not provided [RCV005142716] Chr17:75273499 [GRCh38]
Chr17:73269580 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys) single nucleotide variant Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003337932] Chr17:75277379 [GRCh38]
Chr17:73273460 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4252
Count of miRNA genes:927
Interacting mature miRNAs:1159
Transcripts:ENST00000320362, ENST00000375261, ENST00000402418, ENST00000416858, ENST00000442286, ENST00000579207, ENST00000579228, ENST00000580151, ENST00000580273, ENST00000580994, ENST00000581988, ENST00000582778, ENST00000582822, ENST00000583332, ENST00000584438
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
597153814GWAS1249888_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1249888 (human)1e-08cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)177527966675279667Human
597319096GWAS1415170_Hisobutyrylcarnitine measurement QTL GWAS1415170 (human)3e-14isobutyrylcarnitine measurement177527597975275980Human
597293821GWAS1389895_Hhematocrit QTL GWAS1389895 (human)7e-09hematocrithematocrit (CMO:0000037)177527647075276471Human
597154255GWAS1250329_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1250329 (human)4e-08cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)177527966675279667Human
406990219GWAS639195_Hreticulocyte measurement QTL GWAS639195 (human)2e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)177527966675279667Human
406995193GWAS644169_Hreticulocyte count QTL GWAS644169 (human)2e-10reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)177527966675279667Human
597263943GWAS1360017_Htriglyceride measurement QTL GWAS1360017 (human)1e-12triglyceride measurementblood triglyceride level (CMO:0000118)177527597975275980Human
597263062GWAS1359136_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1359136 (human)2e-08triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)177527966675279667Human

Markers in Region
D17S1769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,269,111 - 73,269,221UniSTSGRCh37
Build 361770,780,706 - 70,780,816RGDNCBI36
Celera1769,861,463 - 69,861,573RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1768,679,315 - 68,679,425UniSTS
SHGC-147512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,269,812 - 73,270,156UniSTSGRCh37
Build 361770,781,407 - 70,781,751RGDNCBI36
Celera1769,862,164 - 69,862,513RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1768,680,016 - 68,680,365UniSTS
TNG Radiation Hybrid Map1733517.0UniSTS
SHGC-64319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,269,312 - 73,269,416UniSTSGRCh37
Build 361770,780,907 - 70,781,011RGDNCBI36
Celera1769,861,664 - 69,861,768RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1768,679,516 - 68,679,620UniSTS
TNG Radiation Hybrid Map1733521.0UniSTS
SLC25A19_1610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,269,052 - 73,269,683UniSTSGRCh37
Build 361770,780,647 - 70,781,278RGDNCBI36
Celera1769,861,404 - 69,862,035RGD
HuRef1768,679,256 - 68,679,887UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA743427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ301616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY346372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM455504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU177306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU607955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA605220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000320362   ⟹   ENSP00000319574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,993 - 75,289,433 (-)Ensembl
Ensembl Acc Id: ENST00000375261   ⟹   ENSP00000364410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,981 - 75,289,449 (-)Ensembl
Ensembl Acc Id: ENST00000402418   ⟹   ENSP00000385312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,993 - 75,287,674 (-)Ensembl
Ensembl Acc Id: ENST00000416858   ⟹   ENSP00000397818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,992 - 75,289,433 (-)Ensembl
Ensembl Acc Id: ENST00000442286   ⟹   ENSP00000402202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,993 - 75,289,390 (-)Ensembl
Ensembl Acc Id: ENST00000579207   ⟹   ENSP00000463720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,283,423 - 75,289,372 (-)Ensembl
Ensembl Acc Id: ENST00000579228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,288,120 - 75,289,449 (-)Ensembl
Ensembl Acc Id: ENST00000580151   ⟹   ENSP00000462299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,283,429 - 75,289,406 (-)Ensembl
Ensembl Acc Id: ENST00000580273   ⟹   ENSP00000463039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,278,238 - 75,289,510 (-)Ensembl
Ensembl Acc Id: ENST00000580994   ⟹   ENSP00000463795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,273,030 - 75,289,411 (-)Ensembl
Ensembl Acc Id: ENST00000581988   ⟹   ENSP00000463428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,283,565 - 75,289,360 (-)Ensembl
Ensembl Acc Id: ENST00000582778   ⟹   ENSP00000462504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,286,335 - 75,289,212 (-)Ensembl
Ensembl Acc Id: ENST00000582822   ⟹   ENSP00000462401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,272,992 - 75,286,723 (-)Ensembl
Ensembl Acc Id: ENST00000583332   ⟹   ENSP00000462214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,273,551 - 75,289,386 (-)Ensembl
Ensembl Acc Id: ENST00000584438   ⟹   ENSP00000464457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,286,647 - 75,289,422 (-)Ensembl
RefSeq Acc Id: NM_001126121   ⟹   NP_001119593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
GRCh371773,269,061 - 73,285,530 (-)NCBI
HuRef1768,679,265 - 68,696,066 (-)ENTREZGENE
CHM1_11773,333,658 - 73,350,100 (-)NCBI
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001126122   ⟹   NP_001119594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
GRCh371773,269,061 - 73,285,530 (-)NCBI
HuRef1768,679,265 - 68,696,066 (-)ENTREZGENE
CHM1_11773,333,658 - 73,350,100 (-)NCBI
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021734   ⟹   NP_068380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
GRCh371773,269,061 - 73,285,530 (-)ENTREZGENE
GRCh371773,269,061 - 73,285,530 (-)NCBI
Build 361770,780,669 - 70,797,109 (-)NCBI Archive
HuRef1768,679,265 - 68,696,066 (-)ENTREZGENE
CHM1_11773,333,658 - 73,350,100 (-)NCBI
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257559   ⟹   XP_005257616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257560   ⟹   XP_005257617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257561   ⟹   XP_005257618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257562   ⟹   XP_005257619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
GRCh371773,269,061 - 73,285,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722007   ⟹   XP_006722070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024928   ⟹   XP_016880417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436512   ⟹   XP_047292468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
RefSeq Acc Id: XM_047436513   ⟹   XP_047292469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
RefSeq Acc Id: XM_047436514   ⟹   XP_047292470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,272,992 - 75,289,433 (-)NCBI
RefSeq Acc Id: XM_054316855   ⟹   XP_054172830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,491 (-)NCBI
RefSeq Acc Id: XM_054316856   ⟹   XP_054172831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
RefSeq Acc Id: XM_054316857   ⟹   XP_054172832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
RefSeq Acc Id: XM_054316858   ⟹   XP_054172833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,491 (-)NCBI
RefSeq Acc Id: XM_054316859   ⟹   XP_054172834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
RefSeq Acc Id: XM_054316860   ⟹   XP_054172835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
RefSeq Acc Id: XM_054316861   ⟹   XP_054172836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,434 (-)NCBI
RefSeq Acc Id: XM_054316862   ⟹   XP_054172837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
RefSeq Acc Id: XM_054316863   ⟹   XP_054172838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,165,078 - 76,181,525 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001119593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001119594 (Get FASTA)   NCBI Sequence Viewer  
  NP_068380 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257616 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257617 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257618 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257619 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722070 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880417 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292468 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292469 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172832 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172833 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172835 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172836 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172837 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172838 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG16903 (Get FASTA)   NCBI Sequence Viewer  
  AAH01075 (Get FASTA)   NCBI Sequence Viewer  
  AAH05120 (Get FASTA)   NCBI Sequence Viewer  
  AAQ54327 (Get FASTA)   NCBI Sequence Viewer  
  BAC11492 (Get FASTA)   NCBI Sequence Viewer  
  BAG53545 (Get FASTA)   NCBI Sequence Viewer  
  CAC27560 (Get FASTA)   NCBI Sequence Viewer  
  CAC37793 (Get FASTA)   NCBI Sequence Viewer  
  CAF86907 (Get FASTA)   NCBI Sequence Viewer  
  CAI46136 (Get FASTA)   NCBI Sequence Viewer  
  EAW89267 (Get FASTA)   NCBI Sequence Viewer  
  EAW89268 (Get FASTA)   NCBI Sequence Viewer  
  EAW89269 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000319574.3
  ENSP00000364410.4
  ENSP00000385312.3
  ENSP00000397818
  ENSP00000397818.2
  ENSP00000402202
  ENSP00000402202.2
  ENSP00000462214
  ENSP00000462214.1
  ENSP00000462299.1
  ENSP00000462401.1
  ENSP00000462504.1
  ENSP00000463039.1
  ENSP00000463428.1
  ENSP00000463720.1
  ENSP00000463795
  ENSP00000463795.1
  ENSP00000464457.1
GenBank Protein Q9HC21 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001119594   ⟸   NM_001126122
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068380   ⟸   NM_021734
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001119593   ⟸   NM_001126121
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257618   ⟸   XM_005257561
- Peptide Label: isoform X1
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257616   ⟸   XM_005257559
- Peptide Label: isoform X1
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257617   ⟸   XM_005257560
- Peptide Label: isoform X1
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257619   ⟸   XM_005257562
- Peptide Label: isoform X1
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722070   ⟸   XM_006722007
- Peptide Label: isoform X1
- UniProtKB: E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q9HC21 (UniProtKB/Swiss-Prot),   Q5JPC1 (UniProtKB/TrEMBL),   Q8NBT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880417   ⟸   XM_017024928
- Peptide Label: isoform X2
- UniProtKB: J3KRY6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000463795   ⟸   ENST00000580994
Ensembl Acc Id: ENSP00000462299   ⟸   ENST00000580151
Ensembl Acc Id: ENSP00000463039   ⟸   ENST00000580273
Ensembl Acc Id: ENSP00000463428   ⟸   ENST00000581988
Ensembl Acc Id: ENSP00000462504   ⟸   ENST00000582778
Ensembl Acc Id: ENSP00000462401   ⟸   ENST00000582822
Ensembl Acc Id: ENSP00000462214   ⟸   ENST00000583332
Ensembl Acc Id: ENSP00000464457   ⟸   ENST00000584438
Ensembl Acc Id: ENSP00000319574   ⟸   ENST00000320362
Ensembl Acc Id: ENSP00000364410   ⟸   ENST00000375261
Ensembl Acc Id: ENSP00000385312   ⟸   ENST00000402418
Ensembl Acc Id: ENSP00000397818   ⟸   ENST00000416858
Ensembl Acc Id: ENSP00000402202   ⟸   ENST00000442286
Ensembl Acc Id: ENSP00000463720   ⟸   ENST00000579207
RefSeq Acc Id: XP_047292470   ⟸   XM_047436514
- Peptide Label: isoform X2
- UniProtKB: J3KRY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292468   ⟸   XM_047436512
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292469   ⟸   XM_047436513
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172837   ⟸   XM_054316862
- Peptide Label: isoform X2
- UniProtKB: J3KRY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172834   ⟸   XM_054316859
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172838   ⟸   XM_054316863
- Peptide Label: isoform X2
- UniProtKB: J3KRY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172832   ⟸   XM_054316857
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172831   ⟸   XM_054316856
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172835   ⟸   XM_054316860
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172830   ⟸   XM_054316855
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172833   ⟸   XM_054316858
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172836   ⟸   XM_054316861
- Peptide Label: isoform X1
- UniProtKB: Q9HC21 (UniProtKB/Swiss-Prot),   E9PF74 (UniProtKB/Swiss-Prot),   Q6V9R7 (UniProtKB/Swiss-Prot),   Q8NBT6 (UniProtKB/TrEMBL),   Q5JPC1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HC21-F1-model_v2 AlphaFold Q9HC21 1-320 view protein structure

Promoters
RGD ID:6794541
Promoter ID:HG_KWN:27093
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:ENST00000375261,   NM_001126121,   NM_001126122,   NM_021734,   UC002JNT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,796,996 - 70,797,912 (-)MPROMDB
RGD ID:6852120
Promoter ID:EP73866
Type:initiation region
Name:HS_SLC25A19
Description:Solute carrier family 25 (mitochondrial deoxynucleotide carrier),member 19.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,797,109 - 70,797,169EPD
RGD ID:7236291
Promoter ID:EPDNEW_H23892
Type:initiation region
Name:SLC25A19_1
Description:solute carrier family 25 member 19
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
GRCh381775,289,398 - 75,289,458EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14409 AgrOrtholog
COSMIC SLC25A19 COSMIC
Ensembl Genes ENSG00000125454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320362.7 UniProtKB/Swiss-Prot
  ENST00000375261.8 UniProtKB/Swiss-Prot
  ENST00000402418.7 UniProtKB/Swiss-Prot
  ENST00000416858 ENTREZGENE
  ENST00000416858.7 UniProtKB/Swiss-Prot
  ENST00000442286 ENTREZGENE
  ENST00000442286.6 UniProtKB/Swiss-Prot
  ENST00000579207.5 UniProtKB/TrEMBL
  ENST00000580151.5 UniProtKB/TrEMBL
  ENST00000580273.1 UniProtKB/TrEMBL
  ENST00000580994 ENTREZGENE
  ENST00000580994.5 UniProtKB/Swiss-Prot
  ENST00000581988.5 UniProtKB/TrEMBL
  ENST00000582778.1 UniProtKB/TrEMBL
  ENST00000582822.1 UniProtKB/TrEMBL
  ENST00000583332 ENTREZGENE
  ENST00000583332.5 UniProtKB/TrEMBL
  ENST00000584438.1 UniProtKB/TrEMBL
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125454 GTEx
HGNC ID HGNC:14409 ENTREZGENE
Human Proteome Map SLC25A19 Human Proteome Map
InterPro Mit_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mito_Solute_Carrier UniProtKB/TrEMBL
  Mitochondrial_Carrier UniProtKB/TrEMBL
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60386 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 60386 ENTREZGENE
OMIM 606521 OMIM
PANTHER CALCIUM-BINDING MITOCHONDRIAL CARRIER PROTEIN ARALAR1 UniProtKB/TrEMBL
  MITOCHONDRIAL 2-OXODICARBOXYLATE CARRIER 1-RELATED UniProtKB/TrEMBL
  MITOCHONDRIAL BASIC AMINO ACIDS TRANSPORTER-RELATED UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mito_carr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37879 PharmGKB
PRINTS MITOCARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOLCAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PF74 ENTREZGENE
  J3KRY6 ENTREZGENE, UniProtKB/TrEMBL
  J3KS44_HUMAN UniProtKB/TrEMBL
  J3KSB1_HUMAN UniProtKB/TrEMBL
  J3KSI7_HUMAN UniProtKB/TrEMBL
  J3KTL0_HUMAN UniProtKB/TrEMBL
  J3QL84_HUMAN UniProtKB/TrEMBL
  J3QLV3_HUMAN UniProtKB/TrEMBL
  J3QS02_HUMAN UniProtKB/TrEMBL
  Q5JPC1 ENTREZGENE, UniProtKB/TrEMBL
  Q6V9R7 ENTREZGENE
  Q8NBT6 ENTREZGENE, UniProtKB/TrEMBL
  Q9HC21 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E9PF74 UniProtKB/Swiss-Prot
  Q6V9R7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-31 SLC25A19  solute carrier family 25 member 19  MCPHA  microcephaly, Amish  Data merged from RGD:1342873 737654 PROVISIONAL
2016-03-08 SLC25A19  solute carrier family 25 member 19    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19  Symbol and/or name change 5135510 APPROVED