Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: 0.46 (G)

Chromosome 17:7676154 (forward strand) | View in location tab


with COSMIC COSM250061 (G/C), COSM45985 (G/A), COSM3766190 (G/C), COSM3766193 (G/C), COSM3766192 (G/C), COSM3766191 (G/C) ; HGMD-PUBLIC CM961374 ; PhenCode TP53_g.11446del (G/-)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 10 synonyms - click the plus to show

This variant has 55 HGVS names - click the plus to show

This variant has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 42 transcripts, has 3227 sample genotypes, is associated with 7 phenotypes and is mentioned in 220 citations.

Variant displays