All variants in the PRPS1 gene

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.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.82G>C r.(?) p.(Gly28Arg) - pathogenic (recessive) g.106871940G>C g.107628710G>C - - PRPS1_000053 - PubMed: Shirakawa 2021 - - Germline - - - - - Yvet den Hartog
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