Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


with HGMD-PUBLIC CM930346

Most severe consequence
Evidence status

Clinical significance


LSDB 17548, 2010_April_001_021_GM2A_272750_0002

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

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

Variation displays