All transcript variants in gene RB1

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

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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.123_136delinsGCC VUS r.(?) p.(Asp41Glufs*4) g.48878171_48878184delinsGCC - - - RB1_002021 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
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