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rs80338901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Tyrosinemia type I
(A;G) 3 carrier for a tyrosinemia type I allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position80180230
GeneFAH
is asnp
is mentioned by
dbSNPrs80338901
ebirs80338901
HLIrs80338901
Exacrs80338901
Varsomers80338901
Maprs80338901
PheGenIrs80338901
hapmaprs80338901
1000 genomesrs80338901
hgdprs80338901
ensemblrs80338901
gopubmedrs80338901
geneviewrs80338901
scholarrs80338901
googlers80338901
pharmgkbrs80338901
gwascentralrs80338901
openSNPrs80338901
23andMers80338901
23andMe allrs80338901
SNP Nexus

SNPshotrs80338901
SNPdbers80338901
MSV3drs80338901
GWAS Ctlgrs80338901
GMAF0.0004591
Max Magnitude5
OMIM276700
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338901(A;A)
Alt rs80338901(A;A)
Reference rs80338901(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.80472572G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012645.5, RCV000078135.4,


[PMID 7757089] Two novel mutations involved in hereditary tyrosinemia type I.

[PMID 8028615] A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

[PMID 8318997] Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

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

[PMID 9705236] Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

[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.