chr17:41197774 A>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.5513T>A
- Protein
- p.V1838E
- Function
- missense
- Localization
- exon
- hg19
- chr17:41197774 A>T
- dbSNP
- rs80357107
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.5372T>A
- p.V1791E
- NM_007298.3
- c.2201T>A
- p.V734E
- NM_007300.3
- c.5576T>A
- p.V1859E
- NM_007299.3
- c.*27T>A
- NR_027676.1
- n.5649T>A
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000077628.4
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000480633.1
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM086011
- Breast cancer
- DM