Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 12:40340400 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050659

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

12:g.40340400G>A
ENST00000479187.5:n.2736G>A
ENST00000298910.11:c.6055G>A
ENSP00000298910.7:p.Gly2019Ser
ENST00000430804.5:c.*2728G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2506 sample genotypes, is associated with 4 phenotypes and is mentioned in 13 citations.

Variant displays