chr17:41244341 TTGAA>T

Основные

  • Gene
  • BRCA1
  • Transcript
  • NM_007294.3
  • cDNA
  • c.3203_3206del
  • Protein
  • p.I1068fs
  • Function
  • frameshift del
  • Localization
  • exon
  • hg19
  • chr17:41244341 TTGAA>T

Синонимы

  • Transcript
  • cDNA
  • Protein
  • NM_007297.3
  • c.3062_3065del
  • p.I1021fs
  • NM_007300.3
  • c.3203_3206del
  • p.I1068fs
  • NM_007298.3
  • c.788-1296_788-1293delTTCA
  • NM_007299.3
  • c.788-1296_788-1293delTTCA
  • NR_027676.1
  • n.3339_3342delTTCA

Frequency in gnomAD

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

ClinVar

  • ID
  • Phenotype
  • Effect