chr13:32912899 CAT>C
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.4408_4409del
- Protein
- p.I1470fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32912899 CAT>C
- dbSNP
- rs80359446
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000009039
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000009039
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000113300.2
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000564465.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD063460
- Breast cancer
- DM