All variants in the FAH gene

Information The variants shown are described using the NM_000137.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.192G>T r.(?) p.(Gln64His) - likely pathogenic g.80450512G>T g.80158170G>T FAH(NM_000137.2):c.192G>T (p.Q64H) - FAH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.192G>T r.(?) p.(Gln64His) - pathogenic g.80450512G>T g.80158170G>T - - FAH_000005 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338894 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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