Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 17:56594888 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990937

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11569, 11562, 2010_April_001_160_NOG_602991_0001

This variant has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays