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.
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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.1259G>A r.(?) p.(Ter420=) - likely benign g.80478550G>A g.80186208G>A FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1259G>A r.(?) p.(Ter420=) - benign g.80478550G>A g.80186208G>A FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1259G>A r.(?) p.(Ter420=) - benign g.80478550G>A g.80186208G>A FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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