Original source

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

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

Chromosome 12:40298488 (forward strand) | View in location tab


with COSMIC COSM693216 (A/T) ; HGMD-PUBLIC CS053469

Most severe consequence
Evidence status

Clinical significance


LSDB NM_198578.3:c.3342A>G

This variation has 5 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad, HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts, has 1 individual genotype, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays