Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 11:2160868 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM081670

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_063727

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays