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CREBBP (p.R1446H)

Variant Data

Location

  • HGVS: ENST00000262367:c.4337G>A
  • Reference Version: GRCh37
  • Chromosome: 16
  • Start: 3788617
  • Stop: 3788617
  • Strand: -1
  • Transcript: ENST00000262367 (ensembl - 74_37)
  • Gene: CREBBP ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: T
  • Amino Acid: p.R1446H
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.4337
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
head and neck squamous cell carcinoma 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
hepatocellular carcinoma 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
gastric adenocarcinoma 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
lung squamous cell carcinoma 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
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
cervix carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
salivary gland adenoid cystic carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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