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 6:43587375 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991064

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12333

HGVS names

This variant has 10 HGVS names - Hide

6:g.43587375C>T
ENST00000372226.1:c.376C>T
ENSP00000361300.1:p.Gln126Ter
ENST00000443535.1:c.190C>T
ENSP00000405320.1:p.Gln64Ter
ENST00000372236.8:c.376C>T
ENSP00000361310.4:p.Gln126Ter
LRG_470:g.16235C>T
LRG_470t1:c.376C>T
LRG_470p1:p.Gln126Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays