View genomic variant #0000000024

Individual ID 00000029
Chromosome 13
Allele Unknown
Affects function (reported) Probably does not affect function
Affects function (concluded) Probably does not affect function
Type Substitution
DNA change (genomic) g.48939097G>A
Reference -
DB-ID RB1_000023 See all 2 reported entries
Frequency -
Average frequency (large NGS studies) 0.00016 View details
Owner Sara Monzón




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 -?/-? 09 c.929G>A r.(?) p.(Gly310Glu)



Screenings

Stop! No screenings found!