chr17:41243843 GTTTAC>G
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3700_3704del
- Белок
- p.V1234fs
- Функция
- frameshift del
- Локализация
- exon
- hg19
- chr17:41243843 GTTTAC>G
- dbSNP
- rs80357609
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.3559_3563del
- p.V1187fs
- NM_007300.3
- c.3700_3704del
- p.V1234fs
- NM_007298.3
- c.788-799_788-795delGTAAA
- NM_007299.3
- c.788-799_788-795delGTAAA
- NR_027676.1
- n.3836_3840delGTAAA
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000238864.1
- Familial cancer of breast
- Pathogenic
- RCV000048287.7
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000235915.3
- not provided
- Pathogenic
- RCV000031123.8
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000131816.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CD951619
- Breast cancer
- DM