chr13:32921034 G>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.7007+1G>A
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr13:32921034 G>A
- dbSNP
- rs397507891
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000232637.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic