Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 17:80210856 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM002400, CM981805

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_202_SGSH_605270_0009, 13071

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 40 transcripts and is associated with 3 phenotypes.

Variant displays