chr17:41244296 AAGCAT>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3247_3251del
- Protein
- p.M1083fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41244296 AAGCAT>A
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3106_3110del
- p.M1036fs
- NM_007300.3
- c.3247_3251del
- p.M1083fs
- NM_007298.3
- c.788-1252_788-1248delATGCT
- NM_007299.3
- c.788-1252_788-1248delATGCT
- NR_027676.1
- n.3383_3387delATGCT
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000496619.2
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000661066.1
- Breast-ovarian cancer, familial 1
- Pathogenic