chr17:41226471 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.4552C>T
- Protein
- p.Q1518X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41226471 G>A
- dbSNP
- rs80356881
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.4411C>T
- p.Q1471X
- NM_007298.3
- c.1240C>T
- p.Q414X
- NM_007299.3
- c.1240C>T
- p.Q414X
- NM_007300.3
- c.4615C>T
- p.Q1539X
- NR_027676.1
- n.4688C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000112357.2
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM1312389
- Breast and/or ovarian cancer
- DM