chr13:32890556 CAG>C
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- r.spl
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr13:32890556 CAG>C
- dbSNP
- rs1064794852
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.0001
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0.0001
- FIN
- –
- 0
- NFE
- –
- 0
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000478133.1
- not provided
- Likely pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD161633
- Breast cancer
- DM