chr17:41215382 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5161C>T
- Protein
- p.Q1721X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41215382 G>A
- dbSNP
- rs878854957
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.5020C>T
- p.Q1674X
- NM_007298.3
- c.1849C>T
- p.Q617X
- NM_007299.3
- c.1849C>T
- p.Q617X
- NM_007300.3
- c.5224C>T
- p.Q1742X
- NR_027676.1
- n.5297C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000571650.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000256774.2
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM1211123
- Breast and/or ovarian cancer
- DM