Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 8:22163947 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040799

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

8:g.22163947G>A
ENST00000521315.5:c.482G>A
ENSP00000430410.1:p.Arg161Gln
ENST00000522109.5:c.*383G>A
ENST00000520605.5:c.277-319G>A
ENST00000437090.6:c.*127G>A
ENST00000524255.5:c.341G>A
ENSP00000429552.1:p.Arg114Gln
ENST00000523296.1:c.323G>A
ENSP00000429619.1:p.Arg108Gln
ENST00000318561.7:c.500G>A
ENSP00000316152.3:p.Arg167Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 24 transcripts, has 2505 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays