chr17:41244145 G>A
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3403C>T
- Белок
- p.Q1135X
- Функция
- stop gain
- Локализация
- exon
- hg19
- chr17:41244145 G>A
- dbSNP
- rs80357136
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.3262C>T
- p.Q1088X
- NM_007300.3
- c.3403C>T
- p.Q1135X
- NM_007298.3
- c.788-1096C>T
- NM_007299.3
- c.788-1096C>T
- NR_027676.1
- n.3539C>T
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000236027.2
- not provided
- Pathogenic
- RCV000077547.5
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000496327.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000574138.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CM993638
- Breast cancer
- DM