Full data view for 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.

82 entries on 1 page. Showing entries 1 - 82.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
+/+ 1 c.46T>C r.(?) p.(Ser16Pro) Parent #1 - pathogenic g.106871904T>C g.107628674T>C - - PRPS1_000037 - MORL Deafness Variation Database, PubMed: Almoguera 2014 - - SUMMARY record - - - - - DNA ? - - retinal disease - PubMed: Almoguera 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.47C>T r.(?) p.(Ser16Phe) Unknown - likely pathogenic g.106871905C>T g.107628675C>T PRPS1 c.47C>T, p.Ser16Phe - PRPS1_000052 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P1 PubMed: Georgiou 2021 pedigree ID: 20175, genetic ID: 35460 F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.82G>C r.(?) p.(Gly28Arg) Maternal (confirmed) - pathogenic (recessive) g.106871940G>C g.107628710G>C - - PRPS1_000053 - PubMed: Shirakawa 2021 - - Germline - - - - - DNA SEQ - - CMT FamPatIV1 PubMed: Shirakawa 2021 4-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - >33y - - - 1 Yvet den Hartog
+/. - c.129A>C r.(?) p.(Glu43Asp) Unknown - pathogenic g.106882531A>C g.107639301A>C PRPS1(NM_002764.4):c.129A>C (p.E43D) - PRPS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.129A>C r.(?) p.(Glu43Asp) Unknown - pathogenic g.106882531A>C g.107639301A>C - - PRPS1_000004 - PubMed: Kim 2007 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Kim 2007 - - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.129A>C r.(?) p.(Glu43Asp) Parent #1 - pathogenic g.106882531A>C g.107639301A>C - - PRPS1_000004 - MORL Deafness Variation Database, PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.130A>G r.(?) p.(Ile44Val) Maternal (confirmed) ACMG pathogenic (recessive) g.106882532A>G - - - PRPS1_000045 - PubMed: Puusepp 2020, Journal: Puusepp 2020 - - Germline - absent from gnomAD - - - DNA SEQ-NG-I Blood TruSight One panel (4800 genes) ARTS;MRXS18 patient PubMed: Puusepp 2020, Journal: Puusepp 2020 2-generation family, 1 affected, unaffected heterozygous carrier females M no Estonia - - - - - 1 Sander Pajusalu
?/. - c.136G>C r.(?) p.(Glu46Gln) Maternal (confirmed) - pathogenic g.106882538G>C g.107639308G>C - - PRPS1_000034 - Mercati et al 2019 submitted - - Germline yes - - - - DNA SEQ - - DFNX1 - Mercati et al 2019 submitted - M - - - - - - - 1 Laurence Jonard
+/. 2 c.154G>C r.(?) p.(Asp52His) Unknown - pathogenic g.106882556G>C g.107639326G>C - - PRPS1_000005 - PubMed: Becker 1995 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.154G>C r.(?) p.(Asp52His) Parent #1 - pathogenic g.106882556G>C g.107639326G>C - - PRPS1_000005 - MORL Deafness Variation Database, PubMed: Zoref 1975, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Chen 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Zoref 1975, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Chen 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.193G>A r.(?) p.(Asp65Asn) Unknown - pathogenic g.106882595G>A g.107639365G>A c.193G>A - PRPS1_000006 - PubMed: Liu 2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.193G>A r.(?) p.(Asp65Asn) Parent #1 - pathogenic g.106882595G>A g.107639365G>A - - PRPS1_000006 - MORL Deafness Variation Database, PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.202A>T r.(?) p.(Met68Leu) Unknown - pathogenic g.106882604A>T g.107639374A>T - - PRPS1_000031 - submitted for publication - - Somatic yes - - - - DNA SEQ-NG-IT - - CMTX5 - - - M no France - 35y - - - 1 Justine Lerat
+/. 2 c.202A>T r.(?) p.(Met68Leu) Maternal (inferred) - pathogenic g.106882604A>T - c.202A>T - PRPS1_000031 - - - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood - retinal disease IV PubMed: Lerat-2019 - M - France French - - - - 1 LOVD
+?/. - c.206A>C r.(?) p.(Glu69Ala) Unknown - pathogenic (dominant) g.106882608A>C g.107639378A>C - - PRPS1_000035 de novo in patient Mercati et al 2019 submitted - - De novo - - - - - DNA SEQ-NG - WES CMTX5 - Mercati et al 2019 submitted - M no Turkey - - - - - 1 Laurence Jonard
+/. - c.250C>T r.(?) p.(Arg84Trp) Unknown ACMG pathogenic g.106882652C>T - - - PRPS1_000058 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1208551 - Germline yes - - - - DNA SEQ-NG-I Buccal swab - ARTS;MRXS18 2781452 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+/. 2 c.259G>A r.(?) p.(Ala87Thr) Unknown - pathogenic g.106882661G>A g.107639431G>A c.259G>A - PRPS1_000007 - PubMed: Liu 2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.259G>A r.(?) p.(Ala87Thr) Parent #1 - pathogenic g.106882661G>A g.107639431G>A - - PRPS1_000007 - MORL Deafness Variation Database, PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Tyson 1996, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Tyson 1996, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.287G>A r.(?) p.(Arg96Gln) Unknown - VUS g.106882689G>A g.107639459G>A - - PRPS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.292G>A r.(?) p.(Asp98Asn) Unknown ACMG likely pathogenic g.106882694G>A g.107639464G>A PRPS1 c.292G>A, p.(Asp98Asn) - PRPS1_000051 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.097 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
-/- 3 c.336T>C r.(=) p.(=) Parent #1 - benign g.106884161T>C g.107640931T>C - - PRPS1_000038 - MORL Deafness Variation Database, PubMed: de Brouwer 1993 - - SUMMARY record - - - - - DNA ? - - ARTS;MRXS18 - PubMed: de Brouwer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.337G>T r.(?) p.(Ala113Ser) Maternal (confirmed) - pathogenic g.106884162G>T g.107640932G>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 - - - - - DNA SEQ-NG-I - - deafness - PubMed: Robusto 2015 3-generation family with two affected male siblings and 2 obligate female carriers. M no Italy - - - - - 1 Giulia Soldà
+/+ 3 c.337G>T r.(?) p.(Ala113Ser) Parent #1 - pathogenic g.106884162G>T g.107640932G>T - - PRPS1_000019 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.341A>G r.(?) p.(Asn114Ser) Unknown - pathogenic g.106884166A>G g.107640936A>G c.341A>G - PRPS1_000008 - PubMed: Roessler 1991 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Roessler 1991 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.341A>G r.(?) p.(Asn114Ser) Parent #1 - pathogenic g.106884166A>G g.107640936A>G - - PRPS1_000008 - MORL Deafness Variation Database, PubMed: Roessler 1993, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Becker 1986, PubMed: Roessler 1991 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Roessler 1993, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Becker 1986, PubMed: Roessler 1991 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.343A>G r.(?) p.(Met115Val) Maternal (confirmed) - pathogenic g.106884168A>G g.107640938A>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 - - - - - DNA SEQ - - deafness - PubMed: Robusto 2015 3-generation family with 4 affected males and 3 obligate carrier females. The carrier females show a milder phenotype. M no Italy - - - - - 1 Giulia Soldà
+/+ 3 c.343A>G r.(?) p.(Met115Val) Parent #1 - pathogenic g.106884168A>G g.107640938A>G - - PRPS1_000020 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Bird 1993, PubMed: Kim 1993, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Bird 1993, PubMed: Kim 1993, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.344T>C r.(?) p.(Met115Thr) Unknown - pathogenic g.106884169T>C g.107640939T>C PRPS1(NM_002764.4):c.344T>C (p.M115T) - PRPS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.344T>C r.(?) p.(Met115Thr) Unknown - pathogenic g.106884169T>C g.107640939T>C c.344T>C - PRPS1_000009 - PubMed: Kim 2007 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Kim 2007 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.344T>C r.(?) p.(Met115Thr) Parent #1 - pathogenic g.106884169T>C g.107640939T>C - - PRPS1_000009 - MORL Deafness Variation Database, PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - SUMMARY record - - - - - DNA ? - - CMT - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.362C>G r.(?) p.(Ala121Gly) Parent #1 - pathogenic g.106884187C>G g.107640957C>G - - PRPS1_000039 - MORL Deafness Variation Database, PubMed: Park 2013, PubMed: Kim 1993, PubMed: Bird 1993 - - SUMMARY record - - - - - DNA ? - - CMT - PubMed: Park 2013, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.366T>C r.(?) p.(Asp122=) Unknown - VUS g.106884191T>C g.107640961T>C PRPS1(NM_001204402.1):c.-82-4216T>C (p.(=)) - PRPS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.372T>G r.(?) p.(Ile124Met) Unknown - likely pathogenic g.106884197T>G - - - PRPS1_000050 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383A>T r.(?) p.(Asp128Val) Unknown - pathogenic g.106884208A>T g.107640978A>T - - PRPS1_000033 - Mercati et al 2019 submitted - - Germline/De novo (untested) yes - - - - DNA SEQ - - CMTX5 - Mercati et al 2019 submitted - M - - - - - - - 1 Laurence Jonard
+/. 3 c.385C>A r.(?) p.(Leu129Ile) Unknown - pathogenic g.106884210C>A g.107640980C>A c.385C>A - PRPS1_000010 - PubMed: Becker 1995 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.385C>A r.(?) p.(Leu129Ile) Parent #1 - pathogenic g.106884210C>A g.107640980C>A - - PRPS1_000010 - MORL Deafness Variation Database, PubMed: Becker 1995, PubMed: de Brouwer 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.398A>C r.(?) p.(Gln133Pro) Unknown - pathogenic g.106884223A>C g.107640993A>C c.398A>C - PRPS1_000011 - PubMed: de Brouwer 2007 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: de Brouwer 2007 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.398A>C r.(?) p.(Gln133Pro) Parent #1 - pathogenic g.106884223A>C g.107640993A>C - - PRPS1_000011 - MORL Deafness Variation Database, PubMed: de Brouwer 1993, PubMed: de Brouwer 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: de Brouwer 1993, PubMed: de Brouwer 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.424G>C r.(?) p.(Val142Leu) Parent #1 - pathogenic g.106885614G>C g.107642384G>C - - PRPS1_000040 - MORL Deafness Variation Database, PubMed: Moran 2012, PubMed: de Brouwer 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Moran 2012, PubMed: de Brouwer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.437A>G r.(?) p.(Tyr146Cys) Unknown - likely pathogenic g.106885627A>G - - - PRPS1_000054 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447G>A r.(?) p.(Pro149=) Unknown - likely benign g.106885637G>A g.107642407G>A PRPS1(NM_002764.3):c.447G>A (p.P149=), PRPS1(NM_002764.4):c.447G>A (p.P149=) - PRPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447G>A r.(?) p.(Pro149=) Unknown - benign g.106885637G>A g.107642407G>A PRPS1(NM_002764.3):c.447G>A (p.P149=), PRPS1(NM_002764.4):c.447G>A (p.P149=) - PRPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.455T>C r.(?) p.(Leu152Pro) Unknown - pathogenic g.106885645T>C g.107642415T>C c.455T>C - PRPS1_000012 - PubMed: de Brouwer 2007 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: de Brouwer 2007 - - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.455T>C r.(?) p.(Leu152Pro) Parent #1 - pathogenic g.106885645T>C g.107642415T>C - - PRPS1_000012 - MORL Deafness Variation Database, PubMed: de Brouwer 1993, PubMed: Arts 1993, PubMed: de Brouwer 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: de Brouwer 1993, PubMed: Arts 1993, PubMed: de Brouwer 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.477C>T r.(?) p.(Ile159=) Unknown - likely benign g.106885667C>T g.107642437C>T PRPS1(NM_002764.4):c.477C>T (p.I159=) - PRPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>T r.(=) p.(=) Parent #1 - likely benign g.106885667C>T g.107642437C>T I159I - PRPS1_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.477C>T r.(?) p.(Ile159=) Unknown - benign g.106885667C>T g.107642437C>T PRPS1(NM_002764.4):c.477C>T (p.I159=) - PRPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.531-74C>T r.(=) p.(=) Maternal (inferred) - VUS g.106888333C>T g.107645103C>T - - PRPS1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.531-74C>T r.(=) p.(=) Maternal (inferred) - VUS g.106888333C>T g.107645103C>T - - PRPS1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.531-15C>T r.(=) p.(=) Unknown - likely benign g.106888392C>T - PRPS1(NM_002764.4):c.531-15C>T - PRPS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531-14G>A r.(=) p.(=) Unknown - likely benign g.106888393G>A - PRPS1(NM_002764.4):c.531-14G>A - PRPS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.547G>C r.(?) p.(Asp183His) Unknown - pathogenic g.106888423G>C g.107645193G>C c.547G>C - PRPS1_000013 - PubMed: Roessler 1991 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Roessler 1991 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.547G>C r.(?) p.(Asp183His) Parent #1 - pathogenic g.106888423G>C g.107645193G>C - - PRPS1_000013 - MORL Deafness Variation Database, PubMed: Roessler 1993, PubMed: Becker 1980, PubMed: de Brouwer 1993, PubMed: Becker 1995, PubMed: Roessler 1991 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Roessler 1993, PubMed: Becker 1980, PubMed: de Brouwer 1993, PubMed: Becker 1995, PubMed: Roessler 1991 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.569C>T r.(?) p.(Ala190Val) Unknown - pathogenic g.106888445C>T g.107645215C>T c.569C>T - PRPS1_000014 - PubMed: Becker 1995 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.569C>T r.(?) p.(Ala190Val) Parent #1 - pathogenic g.106888445C>T g.107645215C>T - - PRPS1_000014 - MORL Deafness Variation Database, PubMed: Becker 1995, PubMed: de Brouwer 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.573G>A r.(?) p.(Leu191=) Unknown - likely benign g.106888449G>A - PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=) - PRPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.573G>A r.(?) p.(Leu191=) Unknown - likely benign g.106888449G>A - PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=) - PRPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.573G>A r.(?) p.(Leu191=) Unknown - likely benign g.106888449G>A - PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=) - PRPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.578A>T r.(?) p.(His193Leu) Unknown - pathogenic g.106888454A>T g.107645224A>T c.578A>T - PRPS1_000015 - PubMed: Garcia-Pavia 2003 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Garcia-Pavia 2003 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.578A>T r.(?) p.(His193Leu) Parent #1 - pathogenic g.106888454A>T g.107645224A>T - - PRPS1_000015 - MORL Deafness Variation Database, PubMed: García-Pavía 2003 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: García-Pavía 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.579C>G r.(?) p.(His193Gln) Unknown - pathogenic g.106888455C>G g.107645225C>G c.579C>G - PRPS1_000016 - PubMed: Becker 1995 - - Germline - - - - - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.579C>G r.(?) p.(His193Gln) Parent #1 - pathogenic g.106888455C>G g.107645225C>G - - PRPS1_000016 - MORL Deafness Variation Database, PubMed: Becker 1995, PubMed: de Brouwer 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.586C>T r.(?) p.(Arg196Trp) Parent #1 - pathogenic g.106888462C>T g.107645232C>T - - PRPS1_000041 - MORL Deafness Variation Database, PubMed: Al-Maawali 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Al-Maawali 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.677G>A r.(?) p.(Cys226Tyr) Unknown - VUS g.106888553G>A g.107645323G>A PRPS1(NM_002764.3):c.677G>A (p.C226Y) - PRPS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.705-6C>T r.(=) p.(=) Unknown - VUS g.106890830C>T g.107647600C>T PRPS1(NM_001204402.1):c.93-6C>T (p.(=)) - PRPS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779G>A r.(?) p.(Arg260His) Unknown - VUS g.106890910G>A - PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H) - PRPS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779G>A r.(?) p.(Arg260His) Unknown - VUS g.106890910G>A - PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H) - PRPS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779G>A r.(?) p.(Arg260His) Unknown - VUS g.106890910G>A - PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H) - PRPS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802G>A r.(?) p.(Ala268Thr) Unknown - VUS g.106890933G>A g.107647703G>A PRPS1(NM_002764.4):c.802G>A (p.A268T) - PRPS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.827C>A r.(?) p.(Pro276His) Unknown - likely pathogenic g.106890958C>A g.107647728C>A - - PRPS1_000047 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/+ 6 c.830A>C r.(?) p.(Gln277Pro) Parent #1 - pathogenic g.106890961A>C g.107647731A>C - - PRPS1_000042 - MORL Deafness Variation Database, PubMed: Synofzik 2014 - - SUMMARY record - - - - - DNA ? - - CMT - PubMed: Synofzik 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.868A>G r.(?) p.(Ile290Val) Unknown - VUS g.106893173A>G - PRPS1(NM_002764.3):c.868A>G (p.I290V) - PRPS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.869T>C r.(?) p.(Ile290Thr) Unknown - pathogenic g.106893174T>C g.107649944T>C c.869T>C - PRPS1_000017 - PubMed: Liu 2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - - - - 1 Johan den Dunnen
+/+ 7 c.869T>C r.(?) p.(Ile290Thr) Parent #1 - pathogenic g.106893174T>C g.107649944T>C - - PRPS1_000017 - MORL Deafness Variation Database, PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Cui 2004, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Cui 2004, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7 c.916G>A r.(?) p.(Gly306Arg) Unknown - pathogenic g.106893221G>A g.107649991G>A c.916G>A - PRPS1_000018 - PubMed: Liu 2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - - - - 1 Johan den Dunnen
+/+ 7 c.916G>A r.(?) p.(Gly306Arg) Parent #1 - pathogenic g.106893221G>A g.107649991G>A - - PRPS1_000018 - MORL Deafness Variation Database, PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Manolis 1999, PubMed: Liu 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Manolis 1999, PubMed: Liu 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.917G>A r.(?) p.(Gly306Glu) Unknown - likely pathogenic g.106893222G>A g.107649992G>A - - PRPS1_000048 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 7 c.925G>T r.(?) p.(Val309Phe) Maternal (confirmed) - pathogenic g.106893230G>T g.107650000G>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 - - - - - DNA SEQ - - deafness - PubMed: Robusto 2015 3-generation family with two affected males and 2 obligate female carriers (DNA of 1st generation not available). The carrier females show a milder phenotype. M no Peru - - - - - 1 Giulia Soldà
+/+ 7 c.925G>T r.(?) p.(Val309Phe) Parent #1 - pathogenic g.106893230G>T g.107650000G>T - - PRPS1_000021 - MORL Deafness Variation Database, PubMed: Robusto 2015, PubMed: Kim 1993, PubMed: Bird 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Robusto 2015, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.942C>T r.(=) p.(=) Parent #1 - likely benign g.106893247C>T g.107650017C>T S314S - PRPS1_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.942C>T r.(?) p.(Ser314=) Unknown - likely benign g.106893247C>T - PRPS1(NM_002764.3):c.942C>T (p.S314=), PRPS1(NM_002764.4):c.942C>T (p.S314=) - PRPS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.942C>T r.(?) p.(Ser314=) Unknown - benign g.106893247C>T - PRPS1(NM_002764.3):c.942C>T (p.S314=), PRPS1(NM_002764.4):c.942C>T (p.S314=) - PRPS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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