chr13:32914766 CTT>C
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6275_6276del
- Protein
- p.L2092fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32914766 CTT>C
- dbSNP
- rs11571658
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.00006671
- 0.00006246
- AFR
- 0
- 0
- AMR
- 0
- 0.00006246
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0.00004562
- NFE
- 0.00006671
- 0.00004577
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000009903.15
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000044884.11
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000131029.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000160300.5
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD951627
- Breast cancer
- DM