Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

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

Chromosome 17:7674220 (forward strand) | View in location tab


with COSMIC COSM10662 (C/T), COSM11491 (C/G), COSM6549 (C/A), COSM46135 (C/-), COSM340105 (C/G), COSM99602 (C/T), COSM241995 (C/A), COSM99020 (C/T), COSM241994 (C/A), COSM340106 (C/G), COSM3356964 (C/T), COSM3378346 (C/A), COSM1640830 (C/T), COSM1646857 (C/A), COSM1646858 (C/G), COSM99021 (C/T), COSM241996 (C/A), COSM340107 (C/G) ; HGMD-PUBLIC CM920675 ; PhenCode TP53_g.13380G>A (C/T), TP53_g.13380G>C (C/G), TP53_g.13380G>T (C/A), TP53_g.13380del (C/-)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 74 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 42 transcripts, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays