chr17:41276061 A>G
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.53T>C
- Protein
- p.M18T
- Function
- missense
- Localization
- exon
- hg19
- chr17:41276061 A>G
- dbSNP
- rs80356929
Синонимы
- Transcript
- cDNA
- Protein
- NM_007298.3
- c.53T>C
- p.M18T
- NM_007299.3
- c.53T>C
- p.M18T
- NM_007300.3
- c.53T>C
- p.M18T
- NM_007297.3
- c.-35T>C
- NR_027676.1
- n.214T>C
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000131693.3
- Hereditary cancer-predisposing syndrome
- Likely pathogenic
- RCV000031245.5
- Breast-ovarian cancer, familial 1
- Conflicting interpretations of pathogenicity
- RCV000212154.1
- not provided
- Likely pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM004187
- Breast cancer
- DM