chr13:32954272 GA>G
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.9247delA
- Protein
- p.K3083fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32954272 GA>G
- dbSNP
- rs397508041
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000575819.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000257577.2
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000045759.4
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000236478.3
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD121947
- Breast cancer
- DM