chr17:41209068 C>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5277+1G>A
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr17:41209068 C>T
- dbSNP
- rs80358150
Синонимы
- Transcript
- cDNA
- Protein
- NM_007300.3
- c.5340+1G>A
- NM_007297.3
- c.5136+1G>A
- NM_007299.3
- c.1965+1G>A
- NM_007298.3
- c.1965+1G>A
- NR_027676.1
- n.5413+1G>A
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000031235.8
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000074601.10
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000131865.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000507129.1
- not specified
- Pathogenic
- RCV000235135.3
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CS013998
- Breast and/or ovarian cancer
- DM