Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 17:80217084 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971353

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_199_SGSH_605270_0003, 13065

HGVS names

This variant has 40 HGVS names - Show

About this variant

This variant overlaps 58 transcripts and is associated with 2 phenotypes.

Variant displays