All variants in the FAH gene

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

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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.1009G>A r.(?) p.(Gly337Ser) - likely pathogenic g.80472514G>A g.80180172G>A - - FAH_000045 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338900 Germline - 2/2794 individuals - 0 - Mohammed Faruq
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