Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM074284

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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