Original source

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

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

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

Co-located

with HGMD-PUBLIC CM992435

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11842

This variation has 9 HGVS names - click the plus to show

5:g.132384155G>A
ENST00000245407.6:c.506G>A
ENSP00000245407.3:p.Arg169Gln
ENST00000437841.5:c.394-1173G>A
ENST00000435065.5:c.578G>A
ENSP00000402760.2:p.Arg193Gln
ENST00000461013.4:n.7928G>A
ENST00000415928.4:c.275G>A
ENSP00000388838.1:p.Arg92Gln

Genotyping chips

This variation has assays on: HumanCoreExome-12

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variation displays