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: < 0.01 (A)

Chromosome 1:16997107 (forward strand) | View in location tab


with COSMIC COSM108065 (G/A)

Most severe consequence
Evidence status

Clinical significance


LSDB NC_000001.9:g.17196189G>A

This variation has 14 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 13 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Somatic mutation displays