Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 17:56594327 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990933

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11568, 2010_April_001_165_NOG_602991_0007

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays