chr17:41244341 TTGAA>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3203_3206del
- Protein
- p.I1068fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41244341 TTGAA>T
- dbSNP
- rs886040102
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3062_3065del
- p.I1021fs
- NM_007300.3
- c.3203_3206del
- p.I1068fs
- NM_007298.3
- c.788-1296_788-1293delTTCA
- NM_007299.3
- c.788-1296_788-1293delTTCA
- NR_027676.1
- n.3339_3342delTTCA
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000257259.2
- Breast-ovarian cancer, familial 1
- Pathogenic