chr17:41256249 C>A

Основные

  • Gene
  • BRCA1
  • Transcript
  • NM_007294.3
  • cDNA
  • c.331G>T
  • Protein
  • p.E111X
  • Function
  • stop gain
  • Localization
  • exon
  • hg19
  • chr17:41256249 C>A
  • dbSNP

Синонимы

  • Transcript
  • cDNA
  • Protein
  • NM_007297.3
  • c.190G>T
  • p.E64X
  • NM_007298.3
  • c.331G>T
  • p.E111X
  • NM_007299.3
  • c.331G>T
  • p.E111X
  • NM_007300.3
  • c.331G>T
  • p.E111X
  • NR_027676.1
  • n.470G>T

Frequency in gnomAD

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