Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 12:52680929 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

Variant allele T
12:g.52680929C>T
ENST00000423955.2:c.-5+11199C>T
ENST00000544024.1:c.-4-14768C>T
ENST00000553310.2:c.-4-14768C>T
ENST00000327741.5:c.1204G>A
ENSP00000369349.4:p.Glu402Lys

Variant allele G
12:g.52680929C>G
ENST00000423955.2:c.-5+11199C>G
ENST00000544024.1:c.-4-14768C>G
ENST00000553310.2:c.-4-14768C>G
ENST00000327741.5:c.1204G>C
ENSP00000369349.4:p.Glu402Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays