Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)

Chromosome 5:1279324 (forward strand) | View in location tab


with COSMIC COSM3723836 (G/A), COSM3723835 (G/A)

Most severe consequence
Evidence status

Clinical significance


LSDB NM_198253.2:c.2097C>T

This variation has 8 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni2.5

About this variant

This variant overlaps 6 transcripts, has 1184 individual genotypes and is associated with 1 phenotype.

Variation displays