chr13:32954022 C>CA
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.9090dupA
- Protein
- p.T3030fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32954022 C>CA
- dbSNP
- rs397507419
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.0000668
- AFR
- –
- 0.0000668
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00002766
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000031791.8
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000195406.7
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000210094.1
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000585671.1
- Familial cancer of breast
- Pathogenic
- RCV000045711.7
- not provided
- Pathogenic
- RCV000130439.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI972563
- Breast cancer
- DM