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.

64 entries on 1 page. Showing entries 1 - 64.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

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 - - - 0 - DNA ? - - RP - PubMed: Almoguera 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.129A>C r.(?) p.(Glu43Asp) Unknown - pathogenic g.106882531A>C g.107639301A>C PRPS1(NM_002764.3):c.129A>C (p.E43D) - PRPS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.129A>C r.(?) p.(Glu43Asp) Unknown - pathogenic g.106882531A>C g.107639301A>C - - PRPS1_000004 - PubMed: Kim 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Kim 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.136G>C r.(?) p.(Glu46Gln) Maternal (confirmed) - pathogenic g.106882538G>C g.107639308G>C - - PRPS1_000034 - Mercati et al 2019 submitted - - Germline yes - - 0 - DNA SEQ - - DFNX-1 - Mercati et al 2019 submitted - M - - - - 0 - - 1 Laurence Jonard
+/. 2 c.154G>C r.(?) p.(Asp52His) Unknown - pathogenic g.106882556G>C g.107639326G>C - - PRPS1_000005 - PubMed: Becker 1995 - - Germline - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Zoref 1975, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Chen 2013 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - 0 - - 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 - - - 0 - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Liu 1993 - - - - - - 0 - - 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 - - 0 - DNA SEQ-NG-IT - - CMTX-5 - - - M no France - 35y 0 - - 1 Justine Lerat
+?/. - 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 - - - 0 - DNA SEQ-NG - WES CMTX-5 - Mercati et al 2019 submitted - M no Turkey - - 0 - - 1 Laurence Jonard
+/. 2 c.259G>A r.(?) p.(Ala87Thr) Unknown - pathogenic g.106882661G>A g.107639431G>A c.259G>A - PRPS1_000007 - PubMed: Liu 2010 - - Germline - - - 0 - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - 0 - - 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 - - - 0 - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Tyson 1996, PubMed: Liu 1993 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.334G>C r.(?) p.(Val112Leu) Unknown - VUS g.106884159G>C g.107640929G>C - - PRPS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 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 - - - 0 - DNA ? - - Arts - PubMed: de Brouwer 1993 - - - - - - 0 - - 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 - - - 0 - DNA SEQ-NG-I - - deafness - PubMed: Robusto 2015 3-generation family with two affected male siblings and 2 obligate female carriers. M no Italy - - 0 - - 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 - - - 0 - DNA ? - - HL - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Liu 1993 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Roessler 1991 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Roessler 1993, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Becker 1986, PubMed: Roessler 1991 - - - - - - 0 - - 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 - - - 0 - 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 - - 0 - - 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 - - - 0 - DNA ? - - HL - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Bird 1993, PubMed: Kim 1993, PubMed: Liu 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.344T>C r.(?) p.(Met115Thr) Unknown - pathogenic g.106884169T>C g.107640939T>C PRPS1(NM_002764.3):c.344T>C (p.M115T) - PRPS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.344T>C r.(?) p.(Met115Thr) Unknown - pathogenic g.106884169T>C g.107640939T>C c.344T>C - PRPS1_000009 - PubMed: Kim 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Kim 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - CMT - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - CMT - PubMed: Park 2013, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - 0 - DNA SEQ - - CMTX-5 - Mercati et al 2019 submitted - M - - - - 0 - - 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: de Brouwer 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: de Brouwer 1993, PubMed: de Brouwer 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Moran 2012, PubMed: de Brouwer 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.444G>A r.(?) p.(Glu148=) Unknown - likely benign g.106885634G>A g.107642404G>A PRPS1(NM_002764.3):c.444G>A (p.E148=) - PRPS1_000036 VKGL data sharing initiative Nederland - - - 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_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.447G>A r.(?) p.(Pro149=) Unknown - benign g.106885637G>A g.107642407G>A PRPS1(NM_002764.3):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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: de Brouwer 2007 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: de Brouwer 1993, PubMed: Arts 1993, PubMed: de Brouwer 2007 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.477C>T r.(?) p.(Ile159=) Unknown - likely benign g.106885667C>T g.107642437C>T PRPS1(NM_002764.3):c.477C>T (p.I159=) - PRPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 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_002764.3):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 - - 0 - - 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 - - 0 - - 1 Yu Sun
+/. 5 c.547G>C r.(?) p.(Asp183His) Unknown - pathogenic g.106888423G>C g.107645193G>C c.547G>C - PRPS1_000013 - PubMed: Roessler 1991 - - Germline - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Roessler 1991 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Roessler 1993, PubMed: Becker 1980, PubMed: de Brouwer 1993, PubMed: Becker 1995, PubMed: Roessler 1991 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Garcia-Pavia 2003 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: García-Pavía 2003 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - superactivity, phosphoribosylpyrophosphate synthetase - PubMed: Becker 1995 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - 0 - - 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 - - - 0 - DNA ? - - ? - PubMed: Al-Maawali 2015 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.779G>A r.(?) p.(Arg260His) Unknown - - g.106890910G>A - PRPS1(NM_002764.3):c.779G>A (p.R260H) - chrX_016007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802G>A r.(?) p.(Ala268Thr) Unknown - VUS g.106890933G>A g.107647703G>A PRPS1(NM_002764.3):c.802G>A (p.A268T) - PRPS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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 - - - 0 - DNA ? - - CMT - PubMed: Synofzik 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 7 c.869T>C r.(?) p.(Ile290Thr) Unknown - pathogenic g.106893174T>C g.107649944T>C c.869T>C - PRPS1_000017 - PubMed: Liu 2010 - - Germline - - - 0 - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - 0 - - 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 - - - 0 - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Cui 2004, PubMed: Liu 1993 - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - deafness - PubMed: Liu 2010 - - - - - - 0 - - 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 - - - 0 - DNA ? - - deafness - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Manolis 1999, PubMed: Liu 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 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 - - - 0 - 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 - - 0 - - 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 - - - 0 - DNA ? - - HL - PubMed: Robusto 2015, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - 0 - - 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 - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
Legend