chr13:32912171 CTGAA>C
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.3680_3683del
- Protein
- p.L1227fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32912171 CTGAA>C
- dbSNP
- rs80359396
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000113206.3
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000509866.1
- Hereditary cancer-predisposing syndrome
- Pathogenic