chr17:41276047 C>CT
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.66dupA
- Protein
- p.E23fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr17:41276047 C>CT
- dbSNP
- rs80357783
Синонимы
- Transcript
- cDNA
- Protein
- NM_007300.3
- c.66dupA
- p.E23fs
- NM_007298.3
- c.66dupA
- p.E23fs
- NM_007299.3
- c.66dupA
- p.E23fs
- NM_007297.3
- c.-22dupA
- NR_027676.1
- n.227dupA
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000031272.7
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000049087.7
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000163427.3
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000478017.2
- not provided
- Pathogenic
- RCV000240681.1
- Neoplasm of the breast
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI962220
- Breast cancer
- DM