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 - Show

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