chr17:41243788 TAGAC>T
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3756_3759del
- Белок
- p.L1252fs
- Функция
- frameshift del
- Локализация
- exon
- hg19
- chr17:41243788 TAGAC>T
- dbSNP
- rs80357868
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.3615_3618del
- p.L1205fs
- NM_007300.3
- c.3756_3759del
- p.L1252fs
- NM_007298.3
- c.788-743_788-740delGTCT
- NM_007299.3
- c.788-743_788-740delGTCT
- NR_027676.1
- n.3892_3895delGTCT
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- 0.00002691
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00002691
- SAS
- –
- 0
ClinVar
- ID
- Фенотип
- Эффект
- RCV000131810.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000239051.2
- Familial cancer of breast
- Pathogenic
- RCV000167859.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000019242.17
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000048314.6
- not provided
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CD941618
- Breast cancer
- DM