chr17:41215890 C>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5152+1G>T
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr17:41215890 C>A
- dbSNP
- rs80358094
Синонимы
- Transcript
- cDNA
- Protein
- NM_007300.3
- c.5215+1G>T
- NM_007297.3
- c.5011+1G>T
- NM_007299.3
- c.1840+1G>T
- NM_007298.3
- c.1840+1G>T
- NR_027676.1
- n.5288+1G>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000048820.3
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000112516.2
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CS951359
- Breast cancer
- DM