chr17:41245968 T>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.1580A>G
- Protein
- p.K527R
- Function
- missense
- Localization
- exon
- hg19
- chr17:41245968 T>C
- dbSNP
- rs774959350
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.1439A>G
- p.K480R
- NM_007300.3
- c.1580A>G
- p.K527R
- NM_007298.3
- c.787+793A>G
- NM_007299.3
- c.787+793A>G
- NR_027676.1
- n.1716A>G
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.000008994
- AFR
- –
- 0
- AMR
- –
- 0
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0.000008994
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000486910.1
- not specified
- VUS