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 15:38322382 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074579

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16205

HGVS names

This variant has 6 HGVS names - Hide

15:g.38322382C>T
ENST00000561317.1:c.286C>T
ENSP00000453680.1:p.Arg96Ter
ENST00000299084.8:c.349C>T
ENSP00000299084.4:p.Arg117Ter
ENST00000561205.1:n.687C>T

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays