View genomic variant #0000000124

Individual ID 00000003
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Insertion/Deletion
DNA change (genomic) g.48936959_48936963delinsTAATGGTTTACCATGAAA
Reference Alonso et al. (2001)
DB-ID RB1_000069
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Javier Alonso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 +/+ 08 c.727_731delinsTAATGGTTTACCATGAAA r.(?) p.(Val243*)



Screenings

Stop! No screenings found!