chr13:32907434 A>T
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.1819A>T
- Protein
- p.K607X
- Function
- stop gain
- Localization
- exon
- hg19
- chr13:32907434 A>T
- dbSNP
- rs80358471
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000496499.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000077668.5
- Breast-ovarian cancer, familial 2
- Pathogenic