All transcript variants in gene RB1

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 c.118G>T pathogenic r.(?) p.(Glu40*) g.48878166G>T - - - RB1_001141 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
Legend