View genomic variant #0000000130

Individual ID 00000132
Chromosome 13
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Deletion
DNA change (genomic) g.48919309_48919324del16
Reference -
DB-ID RB1_000074
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sara Monzón




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 +/+ 04 c.474_489del16 r.(?) p.(Phe159Asnfs*11)



Screenings

Stop! No screenings found!