chr13:32912353 TAATA>T
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.3862_3865del
- Protein
- p.N1288fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32912353 TAATA>T
- dbSNP
- rs80359412
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000216772.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000044292.4
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000412719.1
- not provided
- Pathogenic
- RCV000031443.10
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD003085
- Breast cancer
- DM