Original source

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

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

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


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