chr17:41246073 ATC>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.1473_1474del
- Protein
- p.Q491fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41246073 ATC>A
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007298.3
- c.787+686_787+687delGA
- NM_007299.3
- c.787+686_787+687delGA
- NR_027676.1
- n.1609_1610delGA
- NM_007300.3
- c.1473_1474del
- p.Q491fs
- NM_007297.3
- c.1332_1333del
- p.Q444fs
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –