Full data view for gene PTH1R

Information The variants shown are described using the NM_000316.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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AscendingDNA change (cDNA)     

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DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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ID_report     

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-/. - c.76-1437C>G benign r.(=) p.(=) - - - Unknown g.46933960C>G - PTH1R(NM_000316.2):c.76-1437C>G - PTH1R_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.226G>C VUS r.(?) p.(Gly76Arg) - - - Unknown g.46937272G>C - PTH1R(NM_000316.2):c.226G>C (p.G76R) - PTH1R_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299G>A likely benign r.(?) p.(Gly100Asp) - - - Unknown g.46937345G>A - PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)) - PTH1R_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299G>A VUS r.(?) p.(Gly100Asp) - - - Unknown g.46937345G>A - PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)) - PTH1R_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.310C>T - r.(?) p.(Arg104*) - - - Both (homozygous) g.46937356C>T g.46895866C>T c.338C>T - PTH1R_000010 completely inactivating: mutant protein lacks all functional domains of the PTHR1(large part of the extracellular N terminus, the transmembrane domains, and the intracellular C terminus PubMed: Hoogendam et al. 2007 - - Germline - - - 0 - DNA SEQ tissue in paraffin - BOCD - PubMed: Hoogendam 2007 - F yes (Sweden) - 00y00m 0 - - 1 Arrate Pereda
?/. - c.313+3A>T VUS r.spl? p.? - - - Unknown g.46937362A>T - PTH1R(NM_000316.2):c.313+3A>T (p.?) - PTH1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+4C>T likely benign r.spl? p.? - - - Unknown g.46937363C>T - PTH1R(NM_000316.2):c.313+4C>T - PTH1R_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.356C>T - r.(?) p.(Pro119Leu) - - - Maternal (confirmed) g.46939387C>T g.46897897C>T - - PTH1R_000019 - PubMed: Yamaguchi et al. 2011 - - Germline yes - - 0 - DNA SEQ peripheral blood, saliva - PFE - PubMed: Yamaguchi 2011 3-generation family, 5 affecteds M ? Japan - - 0 - - 5 Arrate Pereda
+/. 6 c.362G>A - r.(?) p.(Gly121Glu) - - - Unknown g.46939393G>A g.46897903G>A - - PTH1R_000012 impaired ability of the mutant receptors to stimulate cAMP production, due to either a decrease in receptor expression and ligand affinity PubMed: Couvineau et al. 2008 - - Somatic - - - 0 - DNA SEQ peripheral blood, tumour - Ollier - PubMed: Couvineau 2008 - ? - (France) - - 0 - - 1 Arrate Pereda
+/. 6 c.364G>A - r.(?) p.(Ala122Thr) - - - Unknown g.46939395G>A g.46897905G>A - - PTH1R_000014 normal expression but suboptimal agonist-induced cAMP production PubMed: Couvineau et al. 2008 - - Somatic - - - 0 - DNA SEQ peripheral blood, tumour - Ollier - PubMed: Couvineau 2008 - ? - (France) - - 0 - - 1 Arrate Pereda
+/. 6 c.395C>T - r.(?) p.(Pro132Leu) - - - Both (homozygous) g.46939426C>T g.46897936C>T - - PTH1R_000006 P132L mutation created a receptor, which still possesses low levels of residual activity PubMed: Hoogendam et al. 2007 - - Germline yes - - 0 - DNA SEQ dermal fibroblasts of the affected fetus - BOCD - PubMed: Hoogendam 2007 3 affected siblings born to parents who where first-degree cousins ? yes ? (unknown) Asian 00y00m 0 - - 3 Arrate Pereda
+/. 6 c.395C>T - r.(?) p.(Pro132Leu) - - - Both (homozygous) g.46939426C>T g.46897936C>T - - PTH1R_000006 P132L mutation created a receptor, which still possesses low levels of residual activity PubMed: Hoogendam et al. 2007 - - Germline/De novo (untested) yes - - 0 - DNA SEQ tissue in paraffin - BOCD - PubMed: Hoogendam 2007 - ? no ? (unknown) Asian 00y00m 0 - - 1 Arrate Pereda
+?/. 6 c.395C>T - r.(?) p.(Pro132Leu) - - - Unknown g.46939426C>T g.46897936C>T - - PTH1R_000006 - PubMed: Yamaguchi et al. 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Yamaguchi 2011 - ? ? (Japan) - - 0 - - 1 Arrate Pereda
+/. 6 c.395C>T - r.(?) p.(Pro132Leu) - - - Both (homozygous) g.46939426C>T g.46897936C>T c.423C>T - PTH1R_000006 Ligand binding of mutant receptor <10% of the observed for WT. cAMP accumulation was substantially reduced compared to WT. PubMed: Zhang et al. 1998 - - Germline - - - 0 - DNA SEQ tissue in paraffin, peripheral blood - BOCD - PubMed: Young 2007 - F yes - Asian 00y00m 0 - - 1 Arrate Pereda
+?/. 7 c.439C>T - r.(?) p.(Arg147Cys) - - - Unknown g.46939578C>T g.46898088C>T - - PTH1R_000020 - PubMed: Yamaguchi et al. 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Yamaguchi 2011 - ? ? (Japan) - - 0 - - 1 Arrate Pereda
?/. - c.448C>T VUS r.(?) p.(Arg150Cys) - - - Unknown g.46939587C>T - PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)) - PTH1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448C>T likely benign r.(?) p.(Arg150Cys) - - - Unknown g.46939587C>T - PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)) - PTH1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.449G>A - r.(?) p.(Arg150His) - - - Paternal (confirmed) g.46939588G>A g.46898098G>A heterozygous C→T change - PTH1R_000007 reduced maximal cAMP production but nomal expression PubMed: Hopyan et al. 2002 - - Germline no - - 0 - DNA SEQ peripheral blood, tumour - Ollier - PubMed: Hopyan 2002 2-generation family, 2 affecteds (son and father: with a mild skeletal dysplasia but no evidence of enchondromas) M - (Canada) - - 0 - - 2 Arrate Pereda
+/. 7 c.449G>A - r.(?) p.(Arg150His) - - - Unknown g.46939588G>A g.46898098G>A heterozygous C→T change - PTH1R_000007 PTH-induced cAMP production was reduced but expression of the receptor was normal PubMed: Hopyan et al. 2002 - - Somatic yes - - 0 - DNA SEQ peripheral blood, tumour - Ollier - PubMed: Hopyan 2002 - M - (Canada) - - 0 - - 1 Arrate Pereda
+/. 7 c.449G>A - r.(?) p.(Arg150His) - - - Unknown g.46939588G>A g.46898098G>A heterozygous C→T change - PTH1R_000007 - PubMed: Hopyan et al. 2002 - - Germline/De novo (untested) no - - 0 - DNA PAGE, Southern tissue - Ollier - PubMed: Hopyan 2002 a mild skeletal dysplasia but no evidence of enchondromas M - (Canada) - - 0 - - 1 Arrate Pereda
?/. - c.449G>T VUS r.(?) p.(Arg150Leu) - - - Unknown g.46939588G>T - PTH1R(NM_000316.2):c.449G>T (p.R150L) - PTH1R_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.463G>T - r.(?) p.(Glu155*) - - - Unknown g.46939602G>T g.46898112G>T - - PTH1R_000017 - PubMed: Decker et al. 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Decker 2008 2 generation family, 2 affecteds M - (Germany) - - 0 - - 2 Arrate Pereda
+?/. i7 c.543+1G>A - r.spl? p.Glu182Valfs*20 - - - Unknown g.46939683G>A g.46898193G>A - - PTH1R_000016 - PubMed: Decker et al. 2008 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Decker 2008 2 generation family, 3 affecteds F;M - (Germany) - - 0 - - 3 Arrate Pereda
+?/. 8 c.557G>A - r.(?) p.(Arg186His) - - - Both (homozygous) g.46939881G>A g.46898391G>A - - PTH1R_000027 abnormal interaction between PTH and the PTH1R receptor, eventually modulated by a compensatory-elevation of PTH PubMed: Guerreiro et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG-I peripheral blood - PHP-1B - PubMed: Guerreiro 2016 1-generation family, 3 siblings affected: all affected siblings being homozygous for the mutation and unaffected individuals being either heterozygous carriers or harbouring two reference alleles F yes Portugal Caucasian 68y 0 - calcium carbonate 4 g/day; calcitriol 0.25 μg/day; carbamazepine 800mg/day 3 Arrate Pereda
+?/. 8 c.557G>A - r.(?) p.(Arg186His) - - - Parent #1 g.46939881G>A g.46898391G>A - - PTH1R_000027 heterozygous: asymptomatic PubMed: Guerreiro et al. 2016 - - Germline - - - 0 - DNA SEQ peripheral blood - PHP-1B - PubMed: Guerreiro 2016 asymptomatic M ? Portugal Caucasian 92y 0 - - 1 Arrate Pereda
+?/. 8 c.557G>A - r.(?) p.(Arg186His) - - - Both (homozygous) g.46939881G>A g.46898391G>A - - PTH1R_000027 - PubMed: Guerreiro et al. 2016 - - Germline yes - - 0 - DNA SEQ peripheral blood - PHP-1B - PubMed: Guerreiro 2016 - F yes Portugal Caucasian - 0 - calcium carbonate, calcitriol 1 Arrate Pereda
+?/. 8 c.557G>A - r.(?) p.(Arg186His) - - - Both (homozygous) g.46939881G>A g.46898391G>A - - PTH1R_000027 - PubMed: Guerreiro et al. 2016 - - Germline yes - - 0 - DNA SEQ peripheral blood - PHP-1B - PubMed: Guerreiro 2016 - M yes Portugal Caucasian - 0 - calcium carbonate, calcitriol 1 Arrate Pereda
?/. 8 c.572delA - r.(?) p.(Tyr191Serfs*14) - - - Maternal (confirmed) g.46939896delA g.46898406delA - - PTH1R_000022 - PubMed: Frazier-Bowers et al. 2014 - - Germline no - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 2-generation family, at least 3 carriers F - (United States) - - 0 - - 3 Arrate Pereda
?/. 8 c.572delA - r.(?) p.(Tyr191Serfs*14) - - - Maternal (confirmed) g.46939896delA g.46898406delA - - PTH1R_000022 - PubMed: Frazier-Bowers et al. 2014 - - Germline no - - 0 - DNA SEQ buccal cells, saliva - osteoarthritis - PubMed: Frazier-Bowers 2014 Unaffected carrier F - (United States) - - 0 - - 1 Arrate Pereda
?/. 8 c.572delA - r.(?) p.(Tyr191Serfs*14) - - - Unknown g.46939896delA g.46898406delA - - PTH1R_000022 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no - - 0 - DNA SEQ buccal cells, saliva - osteoarthritis - PubMed: Frazier-Bowers 2014 Unaffected carrier F - (United States) - - 0 - - 1 Arrate Pereda
-?/. 8i c.638+39_638+40insG - r.(=) p.(=) - - - Parent #1 g.46940001_46940002insG g.46898511_46898512insG c.841+46_841+47 - PTH1R_000023 Polynorphism PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) - MAF: 0.03 - 0 - DNA SEQ buccal cells, saliva - PFE, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - PubMed: Frazier-Bowers 2014 isolated case M - (United States) - - 0 - - 1 Arrate Pereda
?/. 8i c.639-93G>A - r.(=) p.(=) - - - Parent #1 g.46940059G>A g.46898569G>A - - PTH1R_000024 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 2 Arrate Pereda
?/. 8i c.639-93G>A - r.(=) p.(=) - - - Parent #1 g.46940059G>A g.46898569G>A - - PTH1R_000024 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 1 Arrate Pereda
?/. 9 c.646C>A - r.(?) p.(His216Asn) - - - Parent #1 g.46940159C>A g.46898669C>A - - PTH1R_000026 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 2 Arrate Pereda
?/. 9 c.646C>A - r.(?) p.(His216Asn) - - - Parent #1 g.46940159C>A g.46898669C>A - - PTH1R_000026 Healthy PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 Healthy ? - (United States) - - 0 - - 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor PubMed: Schipani et al. 1995 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Schipani 1995 - F - (United States) - - 0 - - 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor PubMed: Schipani et al. 1996 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Silverthorn 1987 - M - (Canada) - - 0 - - 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Maternal (confirmed) g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor PubMed: Schipani et al. 1996 - - Germline yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Charrow and Poznanski 1984 2-generation family, 2 affecteds (mother and daughter) F - (United States) - - 0 - - 2 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor PubMed: Schipani et al. 1996 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Charrow and Poznanski 1984 2-generation family, 2 affecteds (mother and daughter) F - (United States) - - 0 - - 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation PubMed: Schipani et al. 1999 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Kessel 1992 - ? no (United Kingdom (Great Britain)) - - 0 - - 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation PubMed: Schipani et al. 1999 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Schipani 1999 - F - - Asian - 0 - intranasal salmon calcitonin, alendronate (10 mg, twice per week) 1 Arrate Pereda
+/. 9 c.668A>G - r.(?) p.(His223Arg) - - - Parent #1 g.46940181A>G g.46898691A>G - - PTH1R_000001 reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation PubMed: Schipani et al. 1999 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Schipani 1999 - F no ? (unknown) Arabic (Northen Africa) - 0 - - 1 Arrate Pereda
+/. 9 c.764G>A - r.(?) p.(Arg255His) - - - Unknown g.46940277G>A g.46898787G>A - - PTH1R_000013 impaired ability of the mutant receptors to stimulate cAMP production, due to either a decrease in receptor expression and ligand affinity PubMed: Couvineau et al. 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood, tumour - Ollier - PubMed: Couvineau 2008 - ? - (France) - - 0 - - 1 Arrate Pereda
?/. - c.940T>G VUS r.(?) p.(Phe314Val) - - - Unknown g.46940898T>G - PTH1R(NM_000316.2):c.940T>G (p.(Phe314Val)) - PTH1R_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.941T>C VUS r.(?) p.(Phe314Ser) - - - Unknown g.46940899T>C - PTH1R(NM_000316.2):c.941T>C (p.(Phe314Ser)) - PTH1R_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 11 c.996_997insC - r.(?) p.(Ala333Argfs*66) - - - Paternal (inferred) g.46942522_46942523insC g.46901032_46901033insC - - PTH1R_000021 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) yes - - 0 - DNA SEQ buccal cells, saliva - PFE, osteoarthritis - PubMed: Frazier-Bowers 2014 3-generation family, at least 9 affecteds (only 3 individual´s sample available for the test. mother, 2 half-siblings) F - (United States) - - 0 - - 3 Arrate Pereda
+?/. 11 c.996_997insC - r.(?) p.(Ala333Argfs*66) - - - Maternal (confirmed) g.46942522_46942523insC g.46901032_46901033insC - - PTH1R_000021 - PubMed: Frazier-Bowers et al. 2014 - - Germline yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - M - (United States) - - 0 - - 1 Arrate Pereda
+?/. 11 c.996_997insC - r.(?) p.(Ala333Argfs*66) - - - Maternal (confirmed) g.46942522_46942523insC g.46901032_46901033insC - - PTH1R_000021 - PubMed: Frazier-Bowers et al. 2014 - - Germline yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - F - (United States) - - 0 - - 1 Arrate Pereda
+/. 11i c.1049+27G>A - r.[=, 1049_1050ins1049+1_1049+27] p.Cys351* - - - Both (homozygous) g.46942602G>A g.46901112G>A intron M4+27CT - PTH1R_000011 truncated protein lacked the transmembrane domains 5, 6, and 7 and the cytoplasmatic C terminus PubMed: Hoogendam et al. 2007 - - Germline - - - 0 - DNA SEQ dermal fibroblasts of the affected fetus - BOCD - PubMed: Hoogendam 2007 - M ? Turkey - 00y00m 0 - - 1 Arrate Pereda
+?/. 11i c.1050-3C>G - r.1049_1116del p.Cys351Serfs*133 - - - Unknown g.46942901C>G g.46901411C>G - - PTH1R_000015 - PubMed: Decker et al. 2008 - - Germline yes - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Decker 2008 3 generation family, 8 affecteds (5F, 3M) F;M - (Germany) - - 0 - - 8 Arrate Pereda
+?/. i11 c.1050-3C>G - r.1049_1116del p.Cys351Serfs*133 - - - Unknown g.46942901C>G g.46901411C>G - - PTH1R_000015 - PubMed: Decker et al. 2008 - - Germline yes - - 0 - DNA SEQ peripheral blood - PFE - PubMed: Decker 2008 2 generation family, 2 affecteds (mother and son) M - (Germany) - - 0 - - 2 Arrate Pereda
?/. - c.1069G>A VUS r.(?) p.(Gly357Arg) - - - Unknown g.46942923G>A - PTH1R(NM_000316.2):c.1069G>A (p.G357R) - PTH1R_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1093delG - r.(?) p.(Val365Cysfs*141) - - - Both (homozygous) g.46942947delG g.46901457delG c.1122delG - PTH1R_000004 lethal PubMed: Karperien et al. 1999 - - Germline - - - 0 - DNA SEQ peripheral blood - BOCD - PubMed: den Hollander 1997 19-week-old fetus ? yes (Netherlands) Caucasian 00y00m 0 - - 1 Arrate Pereda
?/. - c.1144G>A VUS r.(?) p.(Val382Ile) - - - Unknown g.46943283G>A - PTH1R(NM_000316.2):c.1144G>A (p.(Val382Ile)) - PTH1R_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1148G>A - r.(?) p.(Arg383Gln) - - - Maternal (confirmed) g.46943287G>A g.46901797G>A - - PTH1R_000005 - PubMed: Yamaguchi et al. 2011 - - Germline yes - - 0 - DNA arraySNP, SEQ, SEQ-NG-I peripheral blood, saliva - PFE - PubMed: Yamaguchi 2011 2-generation family, 6 affecteds F - (Japan) - - 0 - - 6 Arrate Pereda
+/. 13 c.1148G>A - r.1117_1148del p.Leu373_Arg383del - - - Maternal (confirmed) g.46943287G>A g.46901797G>A G->A, nucleotide 1176 - PTH1R_000005 fetus was a compound heterozygote: a confirmed mutation in maternal allele + absence of expression of the paternal allele (abnormality not identified) PubMed: Jobert et al. 1998 - - Germline yes - - 0 - DNA SEQ peripheral blood, chondrocyte-like cells - BOCD - PubMed: Loshkajia 1997 - F no (France) - 00y00m 0 - - 2 Arrate Pereda
?/. - c.1183G>A VUS r.(?) p.(Gly395Ser) - - - Unknown g.46943322G>A - PTH1R(NM_000316.2):c.1183G>A (p.(Gly395Ser)) - PTH1R_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198C>T VUS r.(?) p.(Arg400Trp) - - - Unknown g.46943337C>T - - - PTH1R_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1228A>C - r.(?) p.(Thr410Pro) - - - Parent #1 g.46944032A>C g.46902542A>C - - PTH1R_000002 resulted in constitutive activation of the receptor and significantly higher ligand-stimulated accumulation of cyclic AMP and inositol phosphate PubMed: Schipani et al. 1996 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Gram 1959 - ? - (United States) - - 0 - - 1 Arrate Pereda
+/. 14 c.1229C>G - r.(?) p.(Thr410Arg) - - - Paternal (confirmed) g.46944033C>G g.46902543C>G - - PTH1R_000008 basal cAMP accumulation associated with the T410R mutant was only approximately 4-fold higher (less pronounced constitutive activity than T410P, 6-fold) than the wild-type receptor (consistent with the less severe form of JMC) PubMed: Bastepe et al. 2004 - - Germline yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Bastepe 2004 2-generation family, 3 affecteds (2 sons and father) M no Morocco Moroccan (father), Kurdish (mother) - 0 - - 3 Arrate Pereda
+/. 14 c.1229C>G - r.(?) p.(Thr410Arg) - - - Paternal (confirmed) g.46944033C>G g.46902543C>G - - PTH1R_000008 - PubMed: Bastepe et al. 2004 - - Germline yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Bastepe 2004 - M no Morocco Moroccan (father), Kurdish (mother) - 0 - - 1 Arrate Pereda
+/. 14 c.1229C>G - r.(?) p.(Thr410Arg) - - - Paternal (inferred) g.46944033C>G g.46902543C>G - - PTH1R_000008 - PubMed: Bastepe et al. 2004 - - Germline/De novo (untested) yes - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Bastepe 2004 - M ? Morocco Moroccan Jewish - 0 - - 1 Arrate Pereda
+/. 14i c.1354-1G>A - r.spl? p.? - - - Maternal (confirmed) g.46944238G>A g.46902748G>A c.1353-1G>A - PTH1R_000018 - PubMed: Frazier-Bowers et al. 2010 - - Germline yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2010 2-generation family, 4 affecteds (mother and 3 siblings) M - (United States) - - 0 - - 4 Arrate Pereda
+?/. 14i c.1354-1G>A - r.spl? p.? - - - Unknown g.46944238G>A g.46902748G>A c.1353-1G>A - PTH1R_000018 - PubMed: Frazier-Bowers et al. 2010 - - De novo yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2010 - F - (United States) - - 0 - - 1 Arrate Pereda
+?/. 14i c.1354-1G>A - r.spl? p.? - - - Maternal (confirmed) g.46944238G>A g.46902748G>A c.1353-1G>A - PTH1R_000018 - PubMed: Frazier-Bowers et al. 2010 - - Germline yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2010 - M - (United States) - - 0 - - 1 Arrate Pereda
+?/. 14i c.1354-1G>A - r.spl? p.? - - - Maternal (confirmed) g.46944238G>A g.46902748G>A c.1353-1G>A - PTH1R_000018 - PubMed: Frazier-Bowers et al. 2010 - - Germline yes - - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2010 - F - (United States) - - 0 - - 1 Arrate Pereda
+/. 15 c.1373T>G - r.(?) p.(Ile458Arg) - - - Parent #1 g.46944258T>G g.46902768T>G c.1401T>G - PTH1R_000003 2- to 8-fold more cAMP than cells expressing the wild-type receptor; receptors on the cell surface was significantly reduced compared to the number of wildtype receptors; PTH-dependent cAMP accumulation were correlated with levels of receptor expression, PTH displayed increased efficacy with the mutant compared to the wild-type receptor PubMed: Schipani et al. 1999 - - Germline/De novo (untested) - - - 0 - DNA SEQ peripheral blood - chondrodysplasia, metaphyseal, Murk Jansen type - PubMed: Schipani 1999 - M no (United States) Caucasian - 0 - - 1 Arrate Pereda
-/. 15 c.1389T>C - r.(=) p.(=) - - - Parent #1 g.46944274T>C g.46902784T>C - - PTH1R_000025 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no MAF: 0.36 (T) - 0 - DNA SEQ buccal cells, saliva - PFE, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - PubMed: Frazier-Bowers 2014 isolated case M - (United States) - - 0 - - 1 Arrate Pereda
-/. 15 c.1389T>C - r.(=) p.(=) - - - Parent #1 g.46944274T>C g.46902784T>C - - PTH1R_000025 polymorphism PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no MAF: 0.36 (T) - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 3 Arrate Pereda
-/. 15 c.1389T>C - r.(=) p.(=) - - - Parent #1 g.46944274T>C g.46902784T>C - - PTH1R_000025 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) - MAF: 0.36 (T) - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 1 Arrate Pereda
-/. 15 c.1389T>C - r.(=) p.(=) - - - Parent #1 g.46944274T>C g.46902784T>C - - PTH1R_000025 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no MAF: 0.36 (T) - 0 - DNA SEQ buccal cells, saliva - PFE - PubMed: Frazier-Bowers 2014 - ? - (United States) - - 0 - - 1 Arrate Pereda
-/. - c.1389T>C benign r.(?) p.(=) - - - Unknown g.46944274T>C - PTH1R(NM_000316.2):c.1389T>C (p.N463=) - PTH1R_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1389T>C benign r.(?) p.(=) - - - Unknown g.46944274T>C - PTH1R(NM_000316.2):c.1389T>C (p.N463=) - PTH1R_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1453C>T - r.(?) p.(Arg485*) - - - Both (homozygous) g.46944817C>T g.46903327C>T C>T substitution - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - 0 - DNA RFLP, SEQ peripheral blood - Eiken - PubMed: Duchatelet 2005 2-generation family, 4 affecteds M yes (France) Caucasian - 0 - - 4 Arrate Pereda
+/. 16 c.1453C>T - r.(?) p.(Arg485*) - - - Both (homozygous) g.46944817C>T g.46903327C>T c.480C>A (p.160K>N) - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - 0 - DNA SEQ peripheral blood - Eiken - PubMed: Duchatelet 2005 - F yes (France) Caucasian - 0 - - 1 Arrate Pereda
+/. 16 c.1453C>T - r.(?) p.(Arg485*) - - - Both (homozygous) g.46944817C>T g.46903327C>T C>T substitution - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - 0 - DNA SEQ peripheral blood - Eiken - PubMed: Duchatelet 2005 - M yes (France) Caucasian - 0 - - 1 Arrate Pereda
+/. 16 c.1453C>T - r.(?) p.(Arg485*) - - - Both (homozygous) g.46944817C>T g.46903327C>T heterozygous C→T change - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - 0 - DNA SEQ peripheral blood - Eiken - PubMed: Duchatelet 2005 - F yes (France) Caucasian - 0 - - 1 Arrate Pereda
?/. - c.1586A>G VUS r.(?) p.(Asn529Ser) - - - Unknown g.46944950A>G - PTH1R(NM_000316.2):c.1586A>G (p.(Asn529Ser)) - PTH1R_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend