chr17:41243843 GTTTAC>G

Основные

  • Gene
  • BRCA1
  • Transcript
  • NM_007294.3
  • cDNA
  • c.3700_3704del
  • Protein
  • p.V1234fs
  • Function
  • frameshift del
  • Localization
  • exon
  • hg19
  • chr17:41243843 GTTTAC>G

Синонимы

  • Transcript
  • cDNA
  • Protein
  • NM_007297.3
  • c.3559_3563del
  • p.V1187fs
  • NM_007300.3
  • c.3700_3704del
  • p.V1234fs
  • NM_007298.3
  • c.788-799_788-795delGTAAA
  • NM_007299.3
  • c.788-799_788-795delGTAAA
  • NR_027676.1
  • n.3836_3840delGTAAA

Frequency in gnomAD

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

ClinVar

  • ID
  • Phenotype
  • Effect
  • RCV000048287.7
  • Hereditary breast and ovarian cancer syndrome
  • Pathogenic

HGMD

  • ID
  • Phenotype
  • Effect
  • CD951619
  • Breast cancer
  • DM