chr13:32903604 CTG>C
Основные
- Ген
- BRCA2
- Транскрипт
- NM_000059.3
- кДНК
- c.657_658del
- Белок
- p.T219fs
- Функция
- frameshift del
- Локализация
- exon
- hg19
- chr13:32903604 CTG>C
- dbSNP
- rs80359604
Частота в gnomAD
- Genome
- Exome
- MAX
- 0.0002
- 0.00007055
- AFR
- 0.0002
- 0.00007055
- AMR
- 0
- 0.00006048
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0
- 0.00005517
- SAS
- –
- 0.00003329
ClinVar
- ID
- Фенотип
- Эффект
- RCV000210073.2
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000466729.1
- Familial cancer of breast
- Pathogenic
- RCV000044988.8
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000074548.10
- not provided
- Pathogenic
- RCV000131858.6
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000031637.11
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000009929.4
- Fanconi anemia, complementation group D1
- Pathogenic
- RCV000009930.4
- Wilms tumor 1
- Pathogenic
- RCV000009931.4
- Glioma
- Risk factor
- RCV000009932.6
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CD984134
- Breast and/or ovarian cancer
- DM