chr17:41244145 G>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3403C>T
- Protein
- p.Q1135X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41244145 G>A
- dbSNP
- rs80357136
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3262C>T
- p.Q1088X
- NM_007300.3
- c.3403C>T
- p.Q1135X
- NM_007298.3
- c.788-1096C>T
- NM_007299.3
- c.788-1096C>T
- NR_027676.1
- n.3539C>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000236027.2
- not provided
- Pathogenic
- RCV000077547.5
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000496327.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000574138.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM993638
- Breast cancer
- DM