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 17:56594891 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990938

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_162_NOG_602991_0004, 11565

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