Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 17:7675088 (forward strand) | View in location tab


with COSMIC COSM10718 (C/A), COSM10648 (C/T), COSM45416 (C/G), COSM99914 (C/T), COSM1679508 (C/A), COSM99022 (C/T), COSM1679510 (C/A), COSM99023 (C/T), COSM1679512 (C/A), COSM3355994 (C/T), COSM1640851 (C/T), COSM1679509 (C/A), COSM99024 (C/T), COSM1679511 (C/A) ; HGMD-PUBLIC CM951224, CM062017 ; PhenCode TP53_g.12512G>A (C/T), TP53_g.12512G>C (C/G), TP53_g.12512G>T (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 76 HGVS names - click the plus to show

About this variant

This variant overlaps 42 transcripts, is associated with 5 phenotypes and is mentioned in 4 citations.

Somatic mutation displays