Original source

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

Alleles
C/G/T | Ambiguity code: B | MAF: < 0.01 (G)
Location

Chromosome 12:52287145 (forward strand) | View in location tab

Co-located

with COSMIC COSM3812304 (C/T) ; HGMD-PUBLIC CM981149 ; PhenCode HIFD_KRT81:c.1204G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

Variant allele T
12:g.52287145C>T
ENST00000423955.6:c.-5+11199C>T
ENST00000615839.1:c.1204G>A
ENSP00000483796.1:p.Glu402Lys
ENST00000553310.6:c.-4-14768C>T
ENST00000327741.9:c.1204G>A
ENSP00000369349.4:p.Glu402Lys

Variant allele G
12:g.52287145C>G
ENST00000423955.6:c.-5+11199C>G
ENST00000615839.1:c.1204G>C
ENSP00000483796.1:p.Glu402Gln
ENST00000553310.6:c.-4-14768C>G
ENST00000327741.9:c.1204G>C
ENSP00000369349.4:p.Glu402Gln

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, 2 regulatory features, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays