Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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