chr13:32914647 C>G
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6155C>G
- Protein
- p.S2052X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32914647 C>G
- dbSNP
- rs786202461
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000257714.1
- Breast-ovarian cancer, familial 2
- Pathogenic