chr17:41226347 C>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.4675+1G>A
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr17:41226347 C>T
- dbSNP
- rs80358044
Синонимы
- Transcript
- cDNA
- Protein
- NM_007300.3
- c.4738+1G>A
- NM_007297.3
- c.4534+1G>A
- NM_007299.3
- c.1363+1G>A
- NM_007298.3
- c.1363+1G>A
- NR_027676.1
- n.4811+1G>A
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000414441.1
- Neoplasm of the breast
- Pathogenic
- RCV000131822.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000077582.4
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000225764.3
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000048623.6
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CS031769
- Breast cancer
- DM