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 15:38349476 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM093930

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16210

HGVS names

This variant has 3 HGVS names - Hide

15:g.38349476C>T
ENST00000299084.8:c.637C>T
ENSP00000299084.4:p.Gln213Ter

About this variant

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

Variant displays