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 22:19765921 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033032

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

22:g.19765921G>A
ENST00000332710.8:c.928G>A
ENSP00000331791.4:p.Gly310Ser
ENST00000359500.7:c.928G>A
ENSP00000352483.3:p.Gly310Ser
ENST00000329705.11:c.928G>A
ENSP00000331176.7:p.Gly310Ser
ENST00000484336.1:n.123G>A
ENST00000621939.1:c.928G>A
ENSP00000477982.1:p.Gly310Ser
LRG_226:g.14219G>A
LRG_226t1:c.928G>A
LRG_226p1:p.Gly310Ser

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2579 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays