chr13:32914137 C>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.5645C>A
- Protein
- p.S1882X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32914137 C>A
- dbSNP
- rs80358785
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00005813
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0.00005813
- FIN
- –
- 0
- NFE
- –
- 0.00001803
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000585709.1
- Familial cancer of breast
- Pathogenic
- RCV000167830.6
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000240722.1
- Neoplasm of the breast
- Pathogenic
- RCV000131114.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000044705.7
- not provided
- Pathogenic
- RCV000031565.10
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM980241
- Breast cancer
- DM