Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with HGMD-PUBLIC CM970078, CM920015

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB FDH-3, FDH-2

This variant has 36 HGVS names - click the plus to 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