chr17:41243512 CT>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.4035delA
- Protein
- p.E1345fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41243512 CT>C
- dbSNP
- rs80357711
Синонимы
- Transcript
- cDNA
- Protein
- NM_007298.3
- c.788-464delA
- NM_007299.3
- c.788-464delA
- NM_007297.3
- c.3894delA
- p.E1298fs
- NM_007300.3
- c.4035delA
- p.E1345fs
- NR_027676.1
- n.4171delA
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.0005
- 0.00003586
- AFR
- 0
- 0
- AMR
- 0
- 0
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0
- NFE
- 0.0005
- 0.00003586
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000130638.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000048413.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000239274.1
- Familial cancer of breast
- Pathogenic
- RCV000031141.10
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000074587.7
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD961844
- Breast cancer
- DM