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.

2 entries on 1 page. Showing entries 1 - 2.
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     
+/. 5 c.579C>G - r.(?) p.(His193Gln) g.106888455C>G - c.579C>G - PRPS1_000016 - PubMed: Becker 1995 - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.579C>G Pathogenic r.(?) p.(His193Gln) g.106888455C>G - - - PRPS1_000016 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
Legend