This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/C/T|Ancestral: G|Ambiguity code: N|MAF: 0.01 (C)
Location

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

Co-located variants

COSMIC COSM1361433, COSM1361432 ; HGMD-PUBLIC CM084928

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
12:g.40320043G>A
ENST00000479187.5:n.1564G>A
ENST00000481256.1:n.542G>A
ENST00000430804.5:c.*1556G>A
ENST00000298910.11:c.4883G>A
ENSP00000298910.7:p.Arg1628His

Variant allele T
12:g.40320043G>T
ENST00000479187.5:n.1564G>T
ENST00000481256.1:n.542G>T
ENST00000430804.5:c.*1556G>T
ENST00000298910.11:c.4883G>T
ENSP00000298910.7:p.Arg1628Leu

Variant allele C
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 12 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variant displays