chr17:41245586 CT>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.1961delA
- Protein
- p.K654fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41245586 CT>C
- dbSNP
- rs80357522
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.1820delA
- p.K607fs
- NM_007300.3
- c.1961delA
- p.K654fs
- NM_007298.3
- c.787+1174delA
- NM_007299.3
- c.787+1174delA
- NR_027676.1
- n.2097delA
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.00006673
- 0
- AFR
- 0
- 0
- AMR
- 0
- 0
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0.00006673
- 0
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000414241.1
- Neoplasm of the breast
- Pathogenic
- RCV000130764.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000031019.10
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000047660.9
- Hereditary breast and ovarian cancer syndrome
- Conflicting interpretations of pathogenicity
- RCV000677808.1
- Infiltrating duct carcinoma of breast
- Pathogenic
- RCV000236783.5
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD951610
- Breast cancer
- DM