chr17:41244016 TA>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3531delT
- Protein
- p.F1177fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41244016 TA>T
- dbSNP
- rs80357621
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3390delT
- p.F1130fs
- NM_007300.3
- c.3531delT
- p.F1177fs
- NM_007298.3
- c.788-968delT
- NM_007299.3
- c.788-968delT
- NR_027676.1
- n.3667delT
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000497273.1
- not provided
- Pathogenic
- RCV000112111.3
- Breast-ovarian cancer, familial 1
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD146309
- Breast cancer
- DM