chr17:41215382 G>A

Annotations

  • Gene
  • BRCA1
  • Transcript
  • NM_007294.3
  • cDNA
  • c.5161C>T
  • Protein
  • p.Q1721X
  • Function
  • stop gain
  • Localization
  • exon
  • hg19
  • chr17:41215382 G>A

Synonyms

  • Transcript
  • cDNA
  • Protein
  • NM_007297.3
  • c.5020C>T
  • p.Q1674X
  • NM_007298.3
  • c.1849C>T
  • p.Q617X
  • NM_007299.3
  • c.1849C>T
  • p.Q617X
  • NM_007300.3
  • c.5224C>T
  • p.Q1742X
  • NR_027676.1
  • n.5297C>T

Frequency in gnomAD

  • Genome
  • Exome
  • MAX
  • AFR
  • AMR
  • ASJ
  • EAS
  • FIN
  • NFE
  • SAS

ClinVar

  • ID
  • Phenotype
  • Effect

HGMD

  • ID
  • Phenotype
  • Effect
  • CM1211123
  • Breast and/or ovarian cancer
  • DM