chr17:41209079 T>TG
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5266dupC
- Protein
- p.Q1756fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr17:41209079 T>TG
- dbSNP
- rs80357906
Синонимы
- Transcript
- cDNA
- Protein
- NR_027676.1
- n.5402dupC
- NM_007297.3
- c.5125dupC
- p.Q1709fs
- NM_007298.3
- c.1954dupC
- p.Q652fs
- NM_007299.3
- c.1954dupC
- p.Q652fs
- NM_007300.3
- c.5329dupC
- p.Q1777fs
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.0004
- 0.0001
- AFR
- 0
- 0
- AMR
- 0
- 0.00002978
- ASJ
- 0
- 0.0023
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0.0004
- 0.0001
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000495973.1
- Porokeratosis punctata palmaris et plantaris
- Pathogenic
- RCV000019246.20
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000019247.4
- Pancreatic cancer, susceptibility to
- Risk factor
- RCV000119097.14
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000412924.1
- Neoplasm of the breast
- Pathogenic
- RCV000056287.8
- Familial cancer of breast
- Pathogenic
- RCV000131328.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000258962.4
- not
- Pathogenic
- RCV000415060.1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI941841
- Breast cancer
- DM