chr17:41234451 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.4327C>T
- Protein
- p.R1443X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41234451 G>A
- dbSNP
- rs41293455
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.4186C>T
- p.R1396X
- NM_007298.3
- c.1018C>T
- p.R340X
- NM_007299.3
- c.1018C>T
- p.R340X
- NM_007300.3
- c.4327C>T
- p.R1443X
- NR_027676.1
- n.4463C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- 0.0001
- 0.00008935
- AFR
- 0.0001
- 0
- AMR
- 0
- 0.00008935
- ASJ
- 0
- 0
- EAS
- 0
- 0
- FIN
- 0
- 0.00004486
- NFE
- 0
- 0.00001792
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000515235.1
- Pathogenic
- RCV000235131.4
- not provided
- Pathogenic
- RCV000048523.11
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000239083.1
- not specified
- Pathogenic
- RCV000019244.16
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000131880.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000159989.2
- Familial cancer of breast
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM940180
- Breast cancer
- DM