chr17:41258504 A>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.181T>G
- Protein
- p.C61G
- Function
- missense
- Localization
- exon
- hg19
- chr17:41258504 A>C
- dbSNP
- rs28897672
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.40T>G
- p.C14G
- NM_007298.3
- c.181T>G
- p.C61G
- NM_007299.3
- c.181T>G
- p.C61G
- NM_007300.3
- c.181T>G
- p.C61G
- NR_027676.1
- n.342T>G
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00006277
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0.00004488
- NFE
- –
- 0.00006277
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000131902.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000047597.13
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000019229.12
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000506927.1
- not specified
- Pathogenic
- RCV000412714.1
- Neoplasm of the breast
- Pathogenic
- RCV000159935.7
- not provided
- Pathogenic
- RCV000415051.1
- Breast carcinoma
- Pathogenic
- RCV000239114.2
- Familial cancer of breast
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM940172
- Breast cancer
- DM