Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | 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) ; ESP TMP_ESP_1_17323602_17323602 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NC_000001.9:g.17196189G>A

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Somatic mutation displays