Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 7:100226902 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM025301

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

7:g.100226902C>T
ENST00000465294.1:n.1112G>A
ENST00000473374.1:n.464-973G>A
ENST00000490084.1:c.*208G>A
ENST00000431692.1:c.*39G>A
ENST00000473963.1:n.420-973G>A
ENST00000476304.1:n.985G>A
ENST00000544242.1:c.-14G>A
ENST00000462107.1:c.1364G>A
ENSP00000420525.1:p.Arg455Gln
ENST00000223051.3:c.1364G>A
ENSP00000223051.3:p.Arg455Gln
ENST00000462090.1:n.255-973G>A

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays