Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 5:132384155 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992435

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11842

HGVS names

This variant has 9 HGVS names - Hide

5:g.132384155G>A
ENST00000245407.7:c.506G>A
ENSP00000245407.3:p.Arg169Gln
ENST00000437841.6:c.394-1173G>A
ENST00000435065.6:c.578G>A
ENSP00000402760.2:p.Arg193Gln
ENST00000461013.5:n.7928G>A
ENST00000415928.5:c.275G>A
ENSP00000388838.1:p.Arg92Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 9 transcripts and is associated with 3 phenotypes.

Variant displays