Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 11:17387989 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042726

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays