Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 12:42469523 (forward strand) | View in location tab


with HGMD-PUBLIC CM085653

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 15752, NM_153026.2:c.311G>A

HGVS names

This variant has 17 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays