chr17:41223242 G>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.4689C>G
- Protein
- p.Y1563X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41223242 G>C
- dbSNP
- rs80357433
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.4548C>G
- p.Y1516X
- NM_007298.3
- c.1377C>G
- p.Y459X
- NM_007299.3
- c.1377C>G
- p.Y459X
- NM_007300.3
- c.4752C>G
- p.Y1584X
- NR_027676.1
- n.4825C>G
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00001801
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00001801
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000031188.10
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000048631.11
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000159994.4
- not provided
- Pathogenic
- RCV000131835.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000464295.1
- Familial cancer of breast
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM960185
- Breast cancer
- DM