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 17:56594774 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM013955

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11570, 2010_April_001_167_NOG_602991_0009

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays