chr17:41222939 A>G
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.4986+6T>C
- Белок
- Функция
- splicing
- Локализация
- intron
- hg19
- chr17:41222939 A>G
- dbSNP
- rs80358086
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.4845+6T>C
- NM_007298.3
- c.1674+6T>C
- NM_007299.3
- c.1674+6T>C
- NM_007300.3
- c.5049+6T>C
- NR_027676.1
- n.5122+6T>C
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000048724.11
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000131837.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000159997.5
- not provided
- Pathogenic/Likely pathogenic
- RCV000031201.10
- Breast-ovarian cancer, familial 1
- Pathogenic/Likely pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CS991329
- Breast cancer
- DM