chr13:32932019 G>A
Основные
- Ген
- BRCA2
- Транскрипт
- NM_000059.3
- кДНК
- c.7758G>A
- Белок
- p.W2586X
- Функция
- stop gain
- Локализация
- exon
- hg19
- chr13:32932019 G>A
- dbSNP
- rs80359004
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Фенотип
- Эффект
- RCV000496860.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000569377.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000031698.6
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000255811.3
- not provided
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CM021513
- Breast and/or ovarian cancer
- DM