chr17:41243941 G>A
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3607C>T
- Белок
- p.R1203X
- Функция
- stop gain
- Локализация
- exon
- hg19
- chr17:41243941 G>A
- dbSNP
- rs62625308
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.3466C>T
- p.R1156X
- NM_007300.3
- c.3607C>T
- p.R1203X
- NM_007298.3
- c.788-892C>T
- NM_007299.3
- c.788-892C>T
- NR_027676.1
- n.3743C>T
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- 0.00005816
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0.00005816
- FIN
- –
- 0
- NFE
- –
- 0.00001795
- SAS
- –
- 0
ClinVar
- ID
- Фенотип
- Эффект
- RCV000239343.1
- Familial cancer of breast
- Pathogenic
- RCV000131818.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000159978.4
- not provided
- Pathogenic
- RCV000148389.1
- Neoplasm of the breast
- Pathogenic
- RCV000019240.17
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000048251.10
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000677815.1
- Ovarian cancer
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CM940176
- Breast cancer
- DM