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 15:38299530 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4054214 ; HGMD-PUBLIC CM074582

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16209

HGVS names

This variant has 6 HGVS names - Hide

15:g.38299530C>T
ENST00000561317.1:c.127C>T
ENSP00000453680.1:p.Arg43Ter
ENST00000561205.1:n.528C>T
ENST00000299084.8:c.190C>T
ENSP00000299084.4:p.Arg64Ter

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays