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rs80338895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier for a tyrosinemia type I allele
(T;T) 5 Tyrosinemia type I
ReferenceGRCh38 38.1/141
Chromosome15
Position80168263
GeneFAH
is asnp
is mentioned by
dbSNPrs80338895
ebirs80338895
HLIrs80338895
Exacrs80338895
Varsomers80338895
Maprs80338895
PheGenIrs80338895
hapmaprs80338895
1000 genomesrs80338895
hgdprs80338895
ensemblrs80338895
gopubmedrs80338895
geneviewrs80338895
scholarrs80338895
googlers80338895
pharmgkbrs80338895
gwascentralrs80338895
openSNPrs80338895
23andMers80338895
23andMe allrs80338895
SNP Nexus

SNPshotrs80338895
SNPdbers80338895
MSV3drs80338895
GWAS Ctlgrs80338895
Max Magnitude5
OMIM276700
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80338895(T;T)
Alt rs80338895(T;T)
Reference rs80338895(G;G)
Significance Pathogenic
Disease Tyrosinemia type I not provided
Variation info
Gene FAH
CLNDBN Tyrosinemia type I not provided
Reversed 0
HGVS NC_000015.9:g.80460605G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012649.3, RCV000078138.3,


[PMID 8829657] Fumarylacetoacetase mutations in tyrosinaemia type I.


[PMID 9633815] Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.


[PMID 12203990] Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.