View genomic variant #0000000022

Individual ID 00000025
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) g.48936983C>T
Reference -
DB-ID RB1_000026
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 +/+ 08 c.751C>T r.(?) p.(Arg251*)



Screenings

Stop! No screenings found!