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rs80338720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTAT;GTAT) 0 common in complete genomics
(TATG;TATG) 0 common in clinvar
Make rs80338720(-;-)
Make rs80338720(-;GTAT)
ReferenceGRCh38 38.1/141
Chromosome7
Position96189373
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338720
ebirs80338720
HLIrs80338720
Exacrs80338720
Varsomers80338720
Maprs80338720
PheGenIrs80338720
hapmaprs80338720
1000 genomesrs80338720
hgdprs80338720
ensemblrs80338720
gopubmedrs80338720
geneviewrs80338720
scholarrs80338720
googlers80338720
pharmgkbrs80338720
gwascentralrs80338720
openSNPrs80338720
23andMers80338720
23andMe allrs80338720
SNP Nexus

SNPshotrs80338720
SNPdbers80338720
MSV3drs80338720
GWAS Ctlgrs80338720
Max Magnitude0
OMIM603859
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338720(;)
Alt rs80338720(;)
Reference rs80338720(TATG;TATG)
Significance Pathogenic
Disease Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation info
Gene SLC25A13
CLNDBN Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed 1
HGVS NC_000007.13:g.95818684_95818687delCATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006368.3,


[PMID 10369257] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.


[PMID 11281457] Neonatal presentation of adult-onset type II citrullinemia.


[PMID 12424587] Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.