chr13:32950929 G>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.8754+1G>A
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr13:32950929 G>A
- dbSNP
- rs397508006
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000582129.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000239149.1
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CS083218
- Breast cancer
- DM