Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM074579

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16205

This variant has 6 HGVS names - click the plus to show

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

About this variant

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

Variant displays