Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.01 (C)
Location

Chromosome 12:40320043 (forward strand) | View in location tab

Co-located

with COSMIC COSM1361433 (G/A), COSM1361432 (G/A) ; HGMD-PUBLIC CM084928

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

12:g.40320043G>C
ENST00000479187.5:n.1564G>C
ENST00000481256.1:n.542G>C
ENST00000430804.5:c.*1556G>C
ENST00000298910.11:c.4883G>C
ENSP00000298910.7:p.Arg1628Pro

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variant displays