View genomic variant #0000000186

Individual ID 00000182
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Duplication
DNA change (genomic) g.48878094_48878113dup
Reference -
DB-ID RB1_000114
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Javier Alonso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 +/+ 01 c.46_65dup r.(?) p.(Pro25Argfs*47)



Screenings

Stop! No screenings found!