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 5:132378380 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991135

Most severe consequence
 
Stop gained
Evidence status

Synonyms

LSDB 11832

HGVS names

This variant has 9 HGVS names - Hide

5:g.132378380G>A
ENST00000435065.6:c.468G>A
ENSP00000402760.2:p.Trp156Ter
ENST00000461013.5:n.2153G>A
ENST00000245407.7:c.396G>A
ENSP00000245407.3:p.Trp132Ter
ENST00000415928.5:c.165G>A
ENSP00000388838.1:p.Trp55Ter
ENST00000437841.6:c.394-6948G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays