chr17:41226348 C>T
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.4675G>A
- Белок
- p.E1559K
- Функция
- missense
- Локализация
- exon
- hg19
- chr17:41226348 C>T
- dbSNP
- rs80356988
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.4534G>A
- p.E1512K
- NM_007298.3
- c.1363G>A
- p.E455K
- NM_007299.3
- c.1363G>A
- p.E455K
- NM_007300.3
- c.4738G>A
- p.E1580K
- NR_027676.1
- n.4811G>A
Частота в gnomAD
- Genome
- Exome
- MAX
- 0.00006665
- –
- AFR
- 0
- –
- AMR
- 0
- –
- ASJ
- 0
- –
- EAS
- 0
- –
- FIN
- 0
- –
- NFE
- 0.00006665
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000482921.1
- not provided
- Likely pathogenic
- RCV000031185.5
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000496604.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000131823.3
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CM147247
- Breast and/or ovarian cancer
- DM