chr13:32910804 T>G
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.2312T>G
- Protein
- p.L771X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32910804 T>G
- dbSNP
- rs587782095
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.00006666
- –
- AFR
- 0
- –
- AMR
- 0
- –
- ASJ
- 0
- –
- EAS
- 0
- –
- FIN
- 0
- –
- NFE
- 0.00006666
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000657630.1
- not provided
- Pathogenic
- RCV000241179.2
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000130606.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000496732.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM148277
- Breast cancer
- DM