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 17:80214672 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1189595 ; HGMD-PUBLIC CM971361

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_200_SGSH_605270_0005, 13067

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays