Original source

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

A/G | Ancestral: G | Ambiguity code: R | MAF: 0.27 (A)

Chromosome 5:132660272 (forward strand) | View in location tab


with HGMD-PUBLIC CM000405

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 4715 sample genotypes, is associated with 8 phenotypes and is mentioned in 164 citations.

Variant displays