chr17:41243584 T>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3964A>T
- Protein
- p.K1322X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41243584 T>A
- dbSNP
- rs80357343
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3823A>T
- p.K1275X
- NM_007300.3
- c.3964A>T
- p.K1322X
- NM_007298.3
- c.788-535A>T
- NM_007299.3
- c.788-535A>T
- NR_027676.1
- n.4100A>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000590774.1
- Hereditary breast and ovarian cancer syndrome
- Likely pathogenic
- RCV000112218.2
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000563165.1
- Hereditary cancer-predisposing syndrome
- Pathogenic