Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 11:17387595 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM056351, CM061828

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays