Original source

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

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

Chromosome 15:34793398 (forward strand) | View in location tab


with COSMIC COSM960888 (C/T) ; HGMD-PUBLIC CM003400 ; PhenCode FHC0690 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB ACTC_301G_A_081610, 33370

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, is associated with 5 phenotypes and is mentioned in 6 citations.

Variant displays