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rs11555096

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs11555096(A;A)
Make rs11555096(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position80180184
GeneFAH
is asnp
is mentioned by
dbSNPrs11555096
ebirs11555096
HLIrs11555096
Exacrs11555096
Varsomers11555096
Maprs11555096
PheGenIrs11555096
hapmaprs11555096
1000 genomesrs11555096
hgdprs11555096
ensemblrs11555096
gopubmedrs11555096
geneviewrs11555096
scholarrs11555096
googlers11555096
pharmgkbrs11555096
gwascentralrs11555096
openSNPrs11555096
23andMers11555096
23andMe allrs11555096
SNP Nexus

SNPshotrs11555096
SNPdbers11555096
MSV3drs11555096
GWAS Ctlgrs11555096
GMAF0.01056
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM276700
DescFUMARYLACETOACETASE PSEUDODEFICIENCY
Variant0006
Relatedalso


ClinVar
Risk rs11555096(T;T)
Alt rs11555096(T;T)
Reference rs11555096(C;C)
Significance Pathogenic
Disease Fumarylacetoacetase pseudodeficiency Tyrosinemia type I not provided
Variation info
Gene FAH
CLNDBN Fumarylacetoacetase pseudodeficiency Tyrosinemia type I not provided
Reversed 0
HGVS NC_000015.9:g.80472526C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012643.4, RCV000020125.2, RCV000174220.1,



[PMID 7977370OA-icon.png] Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.


[PMID 11278491] Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.