chr17:41244404 AC>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3143delG
- Protein
- p.G1048fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41244404 AC>A
- dbSNP
- rs886040100
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3002delG
- p.G1001fs
- NM_007300.3
- c.3143delG
- p.G1048fs
- NM_007298.3
- c.788-1356delG
- NM_007299.3
- c.788-1356delG
- NR_027676.1
- n.3279delG
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000008987
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000008987
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000257681.2
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000509795.1
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD129127
- Breast cancer
- DM