chr17:41243941 G>A

Основные

  • Gene
  • BRCA1
  • Transcript
  • NM_007294.3
  • cDNA
  • c.3607C>T
  • Protein
  • p.R1203X
  • Function
  • stop gain
  • Localization
  • exon
  • hg19
  • chr17:41243941 G>A

Синонимы

  • Transcript
  • cDNA
  • Protein
  • NM_007297.3
  • c.3466C>T
  • p.R1156X
  • NM_007300.3
  • c.3607C>T
  • p.R1203X
  • NM_007298.3
  • c.788-892C>T
  • NM_007299.3
  • c.788-892C>T
  • NR_027676.1
  • n.3743C>T

Frequency in gnomAD

  • Genome
  • Exome
  • MAX
  • 0.00005816
  • AFR
  • 0
  • AMR
  • 0
  • ASJ
  • 0
  • EAS
  • 0.00005816
  • FIN
  • 0
  • NFE
  • 0.00001795
  • SAS
  • 0

ClinVar

  • ID
  • Phenotype
  • Effect

HGMD

  • ID
  • Phenotype
  • Effect
  • CM940176
  • Breast cancer
  • DM