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 13:102854313 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM025987

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1790

HGVS names

This variant has 12 HGVS names - Hide

13:g.102854313C>T
ENST00000602836.1:c.1682C>T
ENSP00000473384.1:p.Gln562Ter
ENST00000355739.8:c.406C>T
ENSP00000347978.4:p.Gln136Ter
ENST00000535557.5:c.406C>T
ENSP00000442117.1:p.Gln136Ter
ENST00000610537.4:c.406C>T
ENSP00000478667.1:p.Gln136Ter
LRG_464:g.13490C>T
LRG_464t1:c.406C>T
LRG_464p1:p.Gln136Ter

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays