chr17:41246037 CG>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.1510delC
- Protein
- p.R504fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41246037 CG>C
- dbSNP
- rs80357908
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.1369delC
- p.R457fs
- NM_007300.3
- c.1510delC
- p.R504fs
- NM_007298.3
- c.787+723delC
- NM_007299.3
- c.787+723delC
- NR_027676.1
- n.1646delC
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000030999.6
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000496881.3
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000130024.3
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD082060
- Breast and/or ovarian cancer
- DM