chr17:41258504 A>C
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.181T>G
- Белок
- p.C61G
- Функция
- missense
- Локализация
- exon
- hg19
- chr17:41258504 A>C
- dbSNP
- rs28897672
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.40T>G
- p.C14G
- NM_007298.3
- c.181T>G
- p.C61G
- NM_007299.3
- c.181T>G
- p.C61G
- NM_007300.3
- c.181T>G
- p.C61G
- NR_027676.1
- n.342T>G
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- 0.00006277
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0.00004488
- NFE
- –
- 0.00006277
- SAS
- –
- 0
ClinVar
- ID
- Фенотип
- Эффект
- RCV000131902.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000047597.13
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000019229.12
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000506927.1
- not specified
- Pathogenic
- RCV000412714.1
- Neoplasm of the breast
- Pathogenic
- RCV000159935.7
- not provided
- Pathogenic
- RCV000415051.1
- Breast carcinoma
- Pathogenic
- RCV000239114.2
- Familial cancer of breast
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CM940172
- Breast cancer
- DM