Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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 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 14 HGVS names - click the plus to show

Variant allele T
12:g.52287145C>T
ENST00000423955.4:c.-5+11199C>T
ENST00000615839.1:c.1204G>A
ENSP00000483796.1:p.Glu402Lys
ENST00000553310.4:c.-4-14768C>T
ENST00000327741.7:c.1204G>A
ENSP00000369349.4:p.Glu402Lys

Variant allele G
12:g.52287145C>G
ENST00000423955.4:c.-5+11199C>G
ENST00000615839.1:c.1204G>C
ENSP00000483796.1:p.Glu402Gln
ENST00000553310.4:c.-4-14768C>G
ENST00000327741.7:c.1204G>C
ENSP00000369349.4:p.Glu402Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays