chr17:41209148 T>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5198A>T
- Protein
- p.D1733V
- Function
- missense
- Localization
- exon
- hg19
- chr17:41209148 T>A
- dbSNP
- rs80357270
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.5057A>T
- p.D1686V
- NM_007298.3
- c.1886A>T
- p.D629V
- NM_007299.3
- c.1886A>T
- p.D629V
- NM_007300.3
- c.5261A>T
- p.D1754V
- NR_027676.1
- n.5334A>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.00006667
- 0.000008952
- AFR
- 0
- 0
- AMR
- 0
- 0
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0.0006
- 0.0006
- NFE
- 0.00006667
- 0.000008952
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000581282.1
- Hereditary cancer-predisposing syndrome
- VUS