Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

Chromosome 5:151267375 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930346

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17548, 2010_April_001_021_GM2A_272750_0002

This variant has 6 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays