chr17:41243843 GTTTAC>G
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3700_3704del
- Protein
- p.V1234fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41243843 GTTTAC>G
- dbSNP
- rs80357609
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3559_3563del
- p.V1187fs
- NM_007300.3
- c.3700_3704del
- p.V1234fs
- NM_007298.3
- c.788-799_788-795delGTAAA
- NM_007299.3
- c.788-799_788-795delGTAAA
- NR_027676.1
- n.3836_3840delGTAAA
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000238864.1
- Familial cancer of breast
- Pathogenic
- RCV000048287.7
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000235915.3
- not provided
- Pathogenic
- RCV000031123.8
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000131816.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD951619
- Breast cancer
- DM