chr17:41245210 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.2338C>T
- Protein
- p.Q780X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41245210 G>A
- dbSNP
- rs80356945
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.2197C>T
- p.Q733X
- NM_007300.3
- c.2338C>T
- p.Q780X
- NM_007298.3
- c.787+1551C>T
- NM_007299.3
- c.787+1551C>T
- NR_027676.1
- n.2474C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000008996
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000008996
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000162854.4
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000047805.7
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000077515.9
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000414114.2
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM950146
- Breast cancer
- DM