chr17:41244056 ACTAGTATCTTC>A
Основные
- Ген
- BRCA1
- Транскрипт
- NM_007294.3
- кДНК
- c.3481_3491del
- Белок
- p.E1161fs
- Функция
- frameshift del
- Локализация
- exon
- hg19
- chr17:41244056 ACTAGTATCTTC>A
- dbSNP
- rs80357877
Синонимы
- Транскрипт
- кДНК
- Белок
- NM_007297.3
- c.3340_3350del
- p.E1114fs
- NM_007300.3
- c.3481_3491del
- p.E1161fs
- NM_007298.3
- c.788-1018_788-1008delGAAGATACTAG
- NM_007299.3
- c.788-1018_788-1008delGAAGATACTAG
- NR_027676.1
- n.3617_3627delGAAGATACTAG
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000131815.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000048211.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000159917.5
- not provided
- Pathogenic
- RCV000019254.17
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CD951618
- Breast cancer
- DM