Original source

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

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

Chromosome 13:20223218 (forward strand)|View in location tab

Co-located variants

COSMIC COSM945875 ; HGMD-PUBLIC CM002606

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays