Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 4:73412007 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920015, CM970078

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB FDH-3, FDH-2

HGVS names

This variant has 36 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 34 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 4 citations.

Variant displays