chr13:32912240 G>GA
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.3749dupA
- Protein
- p.E1250fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32912240 G>GA
- dbSNP
- rs397507683
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000009118
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000009118
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000241325.2
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000569057.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000497278.1
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI021449
- Ovarian cancer
- DM