View genomic variant #0000000093

Individual ID 00000097
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Duplication
DNA change (genomic) g.48878068_48878069dup
Reference -
DB-ID RB1_000065
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner GEMA GOMEZ MARIANO




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 +/+ 01 c.20_21dup r.(?) p.(Lys8Glufs*58)



Screenings

Stop! No screenings found!