chr13:32921023 G>GT
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6998dupT
- Protein
- p.V2333fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32921023 G>GT
- dbSNP
- rs754611265
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000009003
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000009003
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000204770.2
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000466284.1
- Familial cancer of breast
- Pathogenic
- RCV000579642.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000627461.1
- not provided
- Pathogenic
- RCV000241320.2
- Breast-ovarian cancer, familial 2
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI179321
- Breast cancer
- DM