chr13:32907408 CATCTT>C
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.1794_1798del
- Protein
- p.T598fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32907408 CATCTT>C
- dbSNP
- rs276174813
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00000917
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00000917
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000031337.8
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000168232.5
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000043887.6
- not provided
- Pathogenic
- RCV000129987.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD972072
- Breast cancer
- DM