chr17:41244056 ACTAGTATCTTC>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3481_3491del
- Protein
- p.E1161fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41244056 ACTAGTATCTTC>A
- dbSNP
- rs80357877
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3340_3350del
- p.E1114fs
- NM_007300.3
- c.3481_3491del
- p.E1161fs
- NM_007298.3
- c.788-1018_788-1008delGAAGATACTAG
- NM_007299.3
- c.788-1018_788-1008delGAAGATACTAG
- NR_027676.1
- n.3617_3627delGAAGATACTAG
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000131815.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000048211.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000159917.5
- not provided
- Pathogenic
- RCV000019254.17
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD951618
- Breast cancer
- DM