Original source

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

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

Chromosome 17:7673776 (forward strand) | View in location tab


with COSMIC COSM43813 (G/-), COSM10704 (G/A), COSM10992 (G/C), COSM44918 (G/T), COSM99925 (G/A), COSM99934 (G/C), COSM3378339 (G/A), COSM3675520 (G/C), COSM1725698 (G/C), COSM1636702 (G/A) ; HGMD-PUBLIC CM920678, CM056413 ; PhenCode TP53_g.13824del (G/-), TP53_g.13824C>T (G/A), TP53_g.13824C>G (G/C), TP53_g.13824C>A (G/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 71 HGVS names - click the plus to show

About this variant

This variant overlaps 42 transcripts, is associated with 7 phenotypes and is mentioned in 3 citations.

Variant displays