Original source

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

A/C/G | Ancestral: A | Ambiguity code: V

Chromosome 11:2160829 (forward strand) | View in location tab


with HGMD-PUBLIC CM830002, CM074289

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 30 HGVS names - Show

About this variant

This variant overlaps 34 transcripts, 1 regulatory feature, is associated with 5 phenotypes and is mentioned in 3 citations.

Variant displays