chr17:41258472 C>T
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.212+1G>A
- Белок
- Функция
- splicing
- Локализация
- splice site
- hg19
- chr17:41258472 C>T
- dbSNP
- rs80358042
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007300.3
- c.212+1G>A
- NM_007297.3
- c.71+1G>A
- NM_007299.3
- c.212+1G>A
- NM_007298.3
- c.212+1G>A
- NR_027676.1
- n.351+23G>A
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- 0.00002996
- AFR
- –
- 0
- AMR
- –
- 0.00002996
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0
- SAS
- –
- 0
ClinVar
- ID
- Фенотип
- Эффект
- RCV000031027.6
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000509688.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000505828.1
- not provided
- Pathogenic
- RCV000496861.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CS951355
- Breast cancer
- DM