Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 10:13288512 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001292

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

10:g.13288512G>T
ENST00000396913.6:c.226C>A
ENSP00000380121.2:p.Gln76Lys
ENST00000453759.6:c.226C>A
ENSP00000412525.2:p.Gln76Lys
ENST00000396920.7:c.475C>A
ENSP00000380126.3:p.Gln159Lys
ENST00000263038.8:c.526C>A
ENSP00000263038.4:p.Gln176Lys
ENST00000479604.1:c.532C>A
ENSP00000420117.1:p.Gln178Lys

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays