Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 8:22021460 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040799

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

8:g.22021460G>A
ENST00000521315.1:c.482G>A
ENSP00000430410.1:p.Arg161Gln
ENST00000522109.1:c.*383G>A
ENST00000520605.1:c.277-319G>A
ENST00000437090.2:c.*127G>A
ENST00000524255.1:c.341G>A
ENSP00000429552.1:p.Arg114Gln
ENST00000318561.3:c.500G>A
ENSP00000316152.3:p.Arg167Gln
ENST00000523296.1:c.323G>A
ENSP00000429619.1:p.Arg108Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays