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 13:102856110 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM016233

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1783

This variant has 12 HGVS names - click the plus to show

13:g.102856110C>T
ENST00000602836.1:c.1802C>T
ENSP00000473384.1:p.Gln602Ter
ENST00000535557.5:c.526C>T
ENSP00000442117.1:p.Gln176Ter
ENST00000355739.8:c.526C>T
ENSP00000347978.4:p.Gln176Ter
ENST00000610537.4:c.526C>T
ENSP00000478667.1:p.Gln176Ter
LRG_464:g.15287C>T
LRG_464t1:c.526C>T
LRG_464p1:p.Gln176Ter

About this variant

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

Variant displays