chr13:32932019 G>A
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.7758G>A
- Protein
- p.W2586X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32932019 G>A
- dbSNP
- rs80359004
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000496860.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000569377.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000031698.6
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000255811.3
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM021513
- Breast and/or ovarian cancer
- DM