chr13:32954050 G>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.9117G>A
- Protein
- p.P3039P
- Function
- synonymous
- Localization
- exon
- hg19
- chr13:32954050 G>A
- dbSNP
- rs28897756
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000009119
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000009119
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000045725.11
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000131039.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000515207.1
- Pathogenic
- RCV000031798.9
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000074560.8
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM1516808
- Breast cancer
- DM