Original source

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

C/A | Ancestral: C | Ambiguity code: M

Chromosome 11:2160832 (forward strand) | View in location tab


with HGMD-PUBLIC CM074284

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 17 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays