chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAA
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGC
- Protein
- p.H1326fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAA
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007298.3
- c.788-550_788-523dupTTGATTGGTTCTTCCAAACAAATGAGGC
- NM_007299.3
- c.788-550_788-523dupTTGATTGGTTCTTCCAAACAAATGAGGC
- NM_007297.3
- c.3835_3836insTTGATTGGTTCTTCCAAACAAATGAGGC
- p.H1279fs
- NM_007300.3
- c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGC
- p.H1326fs
- NR_027676.1
- n.4085_4112dupTTGATTGGTTCTTCCAAACAAATGAGGC
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –