View genomic variant #0000000056

Individual ID 00000062
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) g.48921986C>T
Reference -
DB-ID RB1_000042
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 +/+ 05 c.526C>T r.(?) p.(Gln176*)



Screenings

Stop! No screenings found!