chr17:41251880 ACT>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.457_458del
- Protein
- p.S153fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41251880 ACT>A
- dbSNP
- rs397509185
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.316_317del
- p.S106fs
- NM_007298.3
- c.457_458del
- p.S153fs
- NM_007299.3
- c.457_458del
- p.S153fs
- NM_007300.3
- c.457_458del
- p.S153fs
- NR_027676.1
- n.593_594delAG
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000576988.1
- Familial cancer of breast
- Not provided
- RCV000660985.1
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD110361
- Breast and/or ovarian cancer
- DM