All variants in the FAH gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
?/. 12 c.1021C>T r.(?) p.(Arg341Trp) - VUS g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 12 c.1021C>T r.(?) p.(Arg341Trp) - VUS g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.1021C>T r.(?) p.(Arg341Trp) - likely benign g.80472526C>T g.80180184C>T FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1021C>T r.(?) p.(Arg341Trp) - benign g.80472526C>T g.80180184C>T FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1021C>T r.(?) p.(Arg341Trp) - likely benign g.80472526C>T g.80180184C>T FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1021C>T r.(?) p.(Arg341Trp) - VUS g.80472526C>T g.80180184C>T - - FAH_000001 39 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs11555096 Germline - 39/2794 individuals - 0 - Mohammed Faruq
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