Original source

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

C/G/T | Ancestral: G | Ambiguity code: B | MAF: 0.17 (G)

Chromosome 6:161386823 (forward strand) | View in location tab


with HGMD-PUBLIC CM032983

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 28 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 14 transcripts, has 3963 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays