chr17:41215969 C>T
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.5075-1G>A
- Белок
- Функция
- splicing
- Локализация
- splice site
- hg19
- chr17:41215969 C>T
- dbSNP
- rs1800747
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007300.3
- c.5138-1G>A
- NM_007297.3
- c.4934-1G>A
- NM_007299.3
- c.1763-1G>A
- NM_007298.3
- c.1763-1G>A
- NR_027676.1
- n.5211-1G>A
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000579615.1
- Hereditary cancer-predisposing syndrome
- Likely pathogenic
- RCV000496384.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000585700.1
- Familial cancer of breast
- Pathogenic
- RCV000504600.1
- Neoplasm of the breast
- Pathogenic
- RCV000112485.3
- Breast-ovarian cancer, familial 1
- Likely pathogenic
- RCV000480623.1
- not provided
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CS023200
- Breast and/or ovarian cancer
- DM