Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 17:56594551 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM022050

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11574, 2010_April_001_170_NOG_602991_0013

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