View genomic variant #0000000069

Individual ID 00000075
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Duplication
DNA change (genomic) g.48934202_48934203dup
Reference -
DB-ID RB1_000050
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Carlos Rodríguez-Martín




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 +/+ 07 c.657_658dup r.(?) p.(Leu220Argfs*45)



Screenings

Stop! No screenings found!