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.

3 entries on 1 page. Showing entries 1 - 3.
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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.344T>C pathogenic r.(?) p.(Met115Thr) g.106884169T>C - PRPS1(NM_002764.3):c.344T>C (p.M115T) - PRPS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.344T>C - r.(?) p.(Met115Thr) g.106884169T>C - c.344T>C - PRPS1_000009 - PubMed: Kim 2007 - - Germline - - - 0 - Johan den Dunnen
+/+ 3 c.344T>C Pathogenic r.(?) p.(Met115Thr) g.106884169T>C - - - PRPS1_000009 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
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