Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 13:102868199 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM025988

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

13:g.102868199G>A
ENST00000602836.1:c.3896G>A
ENSP00000473384.1:p.Ala1300Thr
ENST00000355739.8:c.2620G>A
ENSP00000347978.4:p.Ala874Thr
ENST00000481099.1:n.740G>A
ENST00000610537.4:c.2617G>A
ENSP00000478667.1:p.Ala873Thr
ENST00000375954.1:c.319G>A
ENSP00000365121.1:p.Ala107Thr
LRG_464:g.27376G>A
LRG_464t1:c.2620G>A
LRG_464p1:p.Ala874Thr

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays