Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 15:38349482 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM074581

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16208

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

Variant allele T
15:g.38349482C>T
ENST00000299084.8:c.643C>T
ENSP00000299084.4:p.Gln215Ter

Variant allele G
15:g.38349482C>G
ENST00000299084.8:c.643C>G
ENSP00000299084.4:p.Gln215Glu

About this variant

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

Variant displays