Original source

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

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

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


with HGMD-PUBLIC CM920015, CM970078

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB FDH-3, 192, 178, 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 3 phenotypes and is mentioned in 4 citations.

Variant displays