chr17:41209095 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5251C>T
- Protein
- p.R1751X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41209095 G>A
- dbSNP
- rs80357123
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.5110C>T
- p.R1704X
- NM_007298.3
- c.1939C>T
- p.R647X
- NM_007299.3
- c.1939C>T
- p.R647X
- NM_007300.3
- c.5314C>T
- p.R1772X
- NR_027676.1
- n.5387C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.0001
- 0.00005798
- AFR
- 0.0001
- 0
- AMR
- 0
- 0
- ASJ
- 0
- 0
- EAS
- 0
- 0.00005798
- FIN
- 0
- 0.00004484
- NFE
- 0
- 0.000008951
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000162884.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000077611.9
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000414226.1
- Neoplasm of the breast
- Pathogenic
- RCV000048882.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000074600.7
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM970175
- Breast cancer
- DM