View genomic variant #0000000090

Individual ID 00000094
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) g.48941648C>T
Reference Alonso et al. (2005)
DB-ID RB1_000006 See all 8 reported entries
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 +/+ 10 c.958C>T r.(?) p.(Arg320*)



Screenings

Stop! No screenings found!