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 15:38299410 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074578

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16206

HGVS names

This variant has 6 HGVS names - Hide

15:g.38299410C>T
ENST00000561317.1:c.7C>T
ENSP00000453680.1:p.Arg3Ter
ENST00000299084.8:c.70C>T
ENSP00000299084.4:p.Arg24Ter
ENST00000561205.1:n.408C>T

About this variant

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

Variant displays