chr13:32914109 GTAAT>G
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.5618_5621del
- Protein
- p.V1873fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr13:32914109 GTAAT>G
- dbSNP
- rs80359526
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000009056
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000009056
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000131115.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000223208.2
- not provided
- Pathogenic
- RCV000031561.7
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000416547.6
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD972080
- Breast cancer
- DM