Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 7:100629279 (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 12 HGVS names - click the plus to show

7:g.100629279C>T
ENST00000465294.3:n.1112G>A
ENST00000473374.3:n.464-973G>A
ENST00000490084.3:c.*208G>A
ENST00000431692.3:c.*39G>A
ENST00000473963.1:n.420-973G>A
ENST00000476304.3:n.985G>A
ENST00000462107.1:c.1364G>A
ENSP00000420525.1:p.Arg455Gln
ENST00000462090.3:n.255-973G>A
ENST00000223051.5:c.1364G>A
ENSP00000223051.3:p.Arg455Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays