TP53 (p.R248Q)

Variant Data

Location

  • HGVS: ENST00000269305:c.743G>A
  • Reference Version: GRCh37
  • Chromosome: 17
  • Start: 7577538
  • Stop: 7577538
  • Strand: -1
  • Transcript: ENST00000269305 (ensembl - 74_37)
  • Gene: TP53 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Stoddart et al., 2014, Blood WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Kihara et al., 2014, Leukemia WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Zeichner et al., 2014, Asian Pac. J. Cancer Prev. WashU hematologic malignancy mutation list (View variants) likely pathogenic
cancer Muller et al., 2014, Cancer Cell Literature (View variants) likely pathogenic
hepatocellular carcinoma Chan et al., 2004, Cancer Chemother. Pharmacol. Literature (View variants) likely pathogenic
cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
hepatocellular carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
ovarian serous cystadenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
glioblastoma multiforme Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
esophageal carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
gastric adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
pancreas adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
urinary bladder urothelial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
uterine corpus endometrial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
breast cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
uterine carcinosarcoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
prostate adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
hepatocellular carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
multiple myeloma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
myelodysplastic syndrome Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
medulloblastoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung small cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
acute myeloid leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
chronic lymphocytic leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
breast cancer Berns et al., 1998, Br. J. Cancer CIViC Knowledgebase (View variants) Civic logo CIViC
breast cancer Olivier et al., 2006, Clin. Cancer Res. CIViC Knowledgebase (View variants) Civic logo CIViC