Original source

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

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

Chromosome 4:186210586 (forward strand) | View in location tab


with HGMD-PUBLIC CM041502

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 15844, NM_207352.3:c.1523G>A

This variant has 7 HGVS names - click the plus to 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