chr13:32972852 C>T
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.10202C>T
- Protein
- p.T3401M
- Function
- missense
- Localization
- exon
- hg19
- chr13:32972852 C>T
- dbSNP
- rs55853199
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.00006668
- 0.0000654
- AFR
- 0
- 0.0000654
- AMR
- 0
- 0.00002985
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0.00006668
- 0.00002694
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000043725.6
- Hereditary breast and ovarian cancer syndrome
- Likely benign
- RCV000435257.2
- not specified
- Conflicting interpretations of pathogenicity
- RCV000132503.4
- Hereditary cancer-predisposing syndrome
- VUS
- RCV000077247.5
- Breast-ovarian cancer, familial 2
- Conflicting interpretations of pathogenicity
HGMD
- ID
- Phenotype
- Effect
- HM971469
- Breast cancer
- DM