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 12:109784378 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM091513, CM106803

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 33471, 13181

HGVS names

This variant has 34 HGVS names - Show

About this variant

This variant overlaps 16 transcripts and is associated with 5 phenotypes.

Variant displays