chr13:32914800 C>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6308C>A
- Protein
- p.S2103X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32914800 C>A
- dbSNP
- rs80358870
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000217398.1
- not provided
- Pathogenic
- RCV000580026.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000113564.3
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM148284
- Breast cancer
- DM