chr17:41243788 TAGAC>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3756_3759del
- Protein
- p.L1252fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41243788 TAGAC>T
- dbSNP
- rs80357868
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.3615_3618del
- p.L1205fs
- NM_007300.3
- c.3756_3759del
- p.L1252fs
- NM_007298.3
- c.788-743_788-740delGTCT
- NM_007299.3
- c.788-743_788-740delGTCT
- NR_027676.1
- n.3892_3895delGTCT
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00002691
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.00002691
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000131810.5
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000239051.2
- Familial cancer of breast
- Pathogenic
- RCV000167859.9
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000019242.17
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000048314.6
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CD941618
- Breast cancer
- DM