chr13:32918745 G>GA
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6893dupA
- Protein
- p.E2298fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32918745 G>GA
- dbSNP
- rs886040933
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000258211.1
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI148299
- Breast cancer
- DM