chr13:32907420 G>GA
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.1806dupA
- Protein
- p.G602fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32907420 G>GA
- dbSNP
- rs80359306
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00006927
- AFR
- –
- 0.00006927
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00001921
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000031343.14
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000131453.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000043897.10
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000160269.5
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI972557
- Breast cancer
- DM