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.

38 entries on 1 page. Showing entries 1 - 38.
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     
+/. - c.129A>C pathogenic r.(?) p.(Glu43Asp) g.106882531A>C - PRPS1(NM_002764.3):c.129A>C (p.E43D) - PRPS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.129A>C - r.(?) p.(Glu43Asp) g.106882531A>C - - - PRPS1_000004 - PubMed: Kim 2007 - - Germline - - - 0 - Johan den Dunnen
?/. - c.136G>C pathogenic r.(?) p.(Glu46Gln) g.106882538G>C g.107639308G>C - - PRPS1_000034 - Mercati et al 2019 submitted - - Germline yes - - 0 - Laurence Jonard
+/. 2 c.154G>C - r.(?) p.(Asp52His) g.106882556G>C - - - PRPS1_000005 - PubMed: Becker 1995 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.193G>A - r.(?) p.(Asp65Asn) g.106882595G>A - c.193G>A - PRPS1_000006 - PubMed: Liu 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.202A>T pathogenic r.(?) p.(Met68Leu) g.106882604A>T - - - PRPS1_000031 - submitted for publication - - Somatic yes - - 0 - Justine Lerat
+?/. - c.206A>C pathogenic (dominant) r.(?) p.(Glu69Ala) g.106882608A>C g.107639378A>C - - PRPS1_000035 de novo in patient Mercati et al 2019 submitted - - De novo - - - 0 - Laurence Jonard
+/. 2 c.259G>A - r.(?) p.(Ala87Thr) g.106882661G>A - c.259G>A - PRPS1_000007 - PubMed: Liu 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.287G>A VUS r.(?) p.(Arg96Gln) g.106882689G>A - - - PRPS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.334G>C VUS r.(?) p.(Val112Leu) g.106884159G>C - - - PRPS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.337G>T - r.(?) p.(Ala113Ser) g.106884162G>T - c.337G>T - PRPS1_000019 variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server PubMed: Robusto 2015 - - Germline - - - 0 - Giulia Soldà
+/. 3 c.341A>G - r.(?) p.(Asn114Ser) g.106884166A>G - c.341A>G - PRPS1_000008 - PubMed: Roessler 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.343A>G - r.(?) p.(Met115Val) g.106884168A>G - c.343A>G - PRPS1_000020 variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server PubMed: Robusto 2015 - - Germline - - - 0 - Giulia Soldà
+/. - 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
?/. - c.366T>C VUS r.(?) p.(=) g.106884191T>C - PRPS1(NM_001204402.1):c.-82-4216T>C (p.(=)) - PRPS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - 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
+/. 3 c.385C>A - r.(?) p.(Leu129Ile) g.106884210C>A - c.385C>A - PRPS1_000010 - PubMed: Becker 1995 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.398A>C - r.(?) p.(Gln133Pro) g.106884223A>C - c.398A>C - PRPS1_000011 - PubMed: de Brouwer 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.444G>A likely benign r.(?) p.(=) g.106885634G>A - PRPS1(NM_002764.3):c.444G>A (p.E148=) - PRPS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.447G>A likely benign r.(?) p.(=) g.106885637G>A - PRPS1(NM_002764.3):c.447G>A (p.P149=) - PRPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.447G>A benign r.(?) p.(=) g.106885637G>A - PRPS1(NM_002764.3):c.447G>A (p.P149=) - PRPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 c.455T>C - r.(?) p.(Leu152Pro) g.106885645T>C - c.455T>C - PRPS1_000012 - PubMed: de Brouwer 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.477C>T likely benign r.(?) p.(=) g.106885667C>T - PRPS1(NM_002764.3):c.477C>T (p.I159=) - PRPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.477C>T - r.(=) p.(=) g.106885667C>T - I159I - PRPS1_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.477C>T benign r.(?) p.(=) g.106885667C>T - PRPS1(NM_002764.3):c.477C>T (p.I159=) - PRPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. - c.531-74C>T - r.(=) p.(=) g.106888333C>T g.107645103C>T - - PRPS1_000001 - - - - Germline - - - - - Yu Sun
./. - c.531-74C>T - r.(=) p.(=) g.106888333C>T g.107645103C>T - - PRPS1_000001 - - - - Germline - - - - - Yu Sun
+/. 5 c.547G>C - r.(?) p.(Asp183His) g.106888423G>C - c.547G>C - PRPS1_000013 - PubMed: Roessler 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.569C>T - r.(?) p.(Ala190Val) g.106888445C>T - c.569C>T - PRPS1_000014 - PubMed: Becker 1995 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.578A>T - r.(?) p.(His193Leu) g.106888454A>T - c.578A>T - PRPS1_000015 - PubMed: Garcia-Pavia 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.579C>G - r.(?) p.(His193Gln) g.106888455C>G - c.579C>G - PRPS1_000016 - PubMed: Becker 1995 - - Germline - - - 0 - Johan den Dunnen
?/. - c.677G>A VUS r.(?) p.(Cys226Tyr) g.106888553G>A - PRPS1(NM_002764.3):c.677G>A (p.C226Y) - PRPS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.705-6C>T VUS r.(=) p.(=) g.106890830C>T - PRPS1(NM_001204402.1):c.93-6C>T (p.(=)) - PRPS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 7 c.869T>C - r.(?) p.(Ile290Thr) g.106893174T>C - c.869T>C - PRPS1_000017 - PubMed: Liu 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.916G>A - r.(?) p.(Gly306Arg) g.106893221G>A - c.916G>A - PRPS1_000018 - PubMed: Liu 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.925G>T - r.(?) p.(Val309Phe) g.106893230G>T - c.925G>T - PRPS1_000021 variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server PubMed: Robusto 2015 - - Germline - - - 0 - Giulia Soldà
-?/. - c.942C>T - r.(=) p.(=) g.106893247C>T - S314S - PRPS1_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
Legend