chr17:41243917 ACT>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3629_3630del
- Protein
- p.E1210fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41243917 ACT>A
- dbSNP
- rs80357589
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3488_3489del
- p.E1163fs
- NM_007300.3
- c.3629_3630del
- p.E1210fs
- NM_007298.3
- c.788-870_788-869delAG
- NM_007299.3
- c.788-870_788-869delAG
- NR_027676.1
- n.3765_3766delAG
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000112141.2
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD003506
- Breast and/or ovarian cancer
- DM