chr13:32906565 C>CA
Основные
- Ген
- BRCA2
- Транскрипт
- NM_000059.3
- кДНК
- c.951dupA
- Белок
- p.T317fs
- Функция
- frameshift ins
- Локализация
- exon
- hg19
- chr13:32906565 C>CA
- dbSNP
- rs80359770
Частота в gnomAD
- Genome
- Exome
- MAX
- –
- 0.00006275
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0.00006275
- FIN
- –
- 0
- NFE
- –
- 0.00000945
- SAS
- –
- 0
ClinVar
- ID
- Фенотип
- Эффект
- RCV000213917.2
- not provided
- Pathogenic
- RCV000077045.6
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000467638.1
- Familial cancer of breast
- Pathogenic
- RCV000045857.3
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000166558.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Фенотип
- Эффект
- CI033568
- Breast cancer
- DM