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 17:80210622 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1225525 ; HGMD-PUBLIC CM971373

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13068, 2010_April_001_201_SGSH_605270_0006

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 21 transcripts and is associated with 3 phenotypes.

Variant displays