All transcript variants in gene PRPS1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002764.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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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     
?/. - c.383A>T pathogenic r.(?) p.(Asp128Val) g.106884208A>T g.107640978A>T - - PRPS1_000033 - Mercati et al 2019 submitted - - Germline/De novo (untested) yes - - 0 - Laurence Jonard
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