All variants in the FAH gene

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

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.82-13G>A r.(=) p.(=) - benign g.80450389G>A g.80158047G>A FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.82-13G>A r.(=) p.(=) - benign g.80450389G>A g.80158047G>A FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.82-13G>A r.(=) p.(=) - benign g.80450389G>A g.80158047G>A FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query