chr17:41244839 A>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.2709T>A
- Protein
- p.C903X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41244839 A>T
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.2568T>A
- p.C856X
- NM_007300.3
- c.2709T>A
- p.C903X
- NM_007298.3
- c.788-1790T>A
- NM_007299.3
- c.788-1790T>A
- NR_027676.1
- n.2845T>A
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000585837.2
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000585811.2
- FANCONI ANEMIA, COMPLEMENTATION GROUP S
- Pathogenic