chr17:41243584 T>A
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3964A>T
- Белок
- p.K1322X
- Функция
- stop gain
- Локализация
- exon
- hg19
- chr17:41243584 T>A
- dbSNP
- rs80357343
Синонимы
- Транскрипт
- кДНК
- Белок
- 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
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- 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