chr17:41276044 ACT>A
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.68_69del
- Белок
- p.E23fs
- Функция
- frameshift del
- Локализация
- exon
- hg19
- chr17:41276044 ACT>A
- dbSNP
- rs386833395
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007298.3
- c.68_69del
- p.E23fs
- NM_007299.3
- c.68_69del
- p.E23fs
- NM_007300.3
- c.68_69del
- p.E23fs
- NM_007297.3
- c.-20_-19delAG
- NR_027676.1
- n.229_230delAG
Частота в gnomAD
- Genome
- Exome
- MAX
- 0
- 0.0001
- AFR
- 0
- 0
- AMR
- 0
- 0.00002978
- ASJ
- 0.0033
- 0.0038
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0
- 0.00009884
- SAS
- –
- 0.0001
ClinVar
- ID
- Фенотип
- Эффект
- RCV000056295.6
- Familial cancer of breast
- Pathogenic
- RCV000019230.19
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000034761.14
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000019231.3
- Pancreatic cancer 4
- Risk factor
- RCV000213650.5
- not provided
- Pathogenic
- RCV000507310.1
- not specified
- Pathogenic
- RCV000131394.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CD951600
- Breast cancer
- DM