Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 17:7674221 (forward strand) | View in location tab


with COSMIC COSM1189383 (G/C), COSM120006 (G/A), COSM1640831 (G/A), COSM3388183 (G/A), COSM1189382 (G/C), COSM120005 (G/A), COSM1189381 (G/C), COSM120007 (G/A), COSM44920 (G/T), COSM10656 (G/A), COSM45116 (G/-), COSM11564 (G/C) ; HGMD-PUBLIC CM010465, CM900211 ; PhenCode TP53_g.13379C>T (G/A), TP53_g.13379del (G/-), TP53_g.13379C>G (G/C), TP53_g.13379C>A (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 74 HGVS names - click the plus to show

About this variant

This variant overlaps 42 transcripts and is associated with 3 phenotypes.

Variation displays