Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:2160835 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM082896

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_063729

HGVS names

This variant has 15 HGVS names - Show

About this variant

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

Variant displays