Unique variants in gene PTH1R

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

41 entries on 1 page. Showing entries 1 - 41.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

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     
-/. 1 - c.76-1437C>G benign r.(=) p.(=) - - - g.46933960C>G - PTH1R(NM_000316.2):c.76-1437C>G - PTH1R_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.226G>C VUS r.(?) p.(Gly76Arg) - - - g.46937272G>C - PTH1R(NM_000316.2):c.226G>C (p.G76R) - PTH1R_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.299G>A likely benign, VUS r.(?) p.(Gly100Asp) - - - g.46937345G>A - PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)) - PTH1R_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 5 c.310C>T - r.(?) p.(Arg104*) - - - g.46937356C>T g.46895866C>T c.338C>T - PTH1R_000010 1 more item PubMed: Hoogendam et al. 2007 - - Germline - - - - - Arrate Pereda
?/. 1 - c.313+3A>T VUS r.spl? p.? - - - g.46937362A>T - PTH1R(NM_000316.2):c.313+3A>T (p.?) - PTH1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.313+4C>T likely benign r.spl? p.? - - - g.46937363C>T - PTH1R(NM_000316.2):c.313+4C>T - PTH1R_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 6 c.356C>T - r.(?) p.(Pro119Leu) - - - g.46939387C>T g.46897897C>T - - PTH1R_000019 - PubMed: Yamaguchi et al. 2011 - - Germline yes - - - - Arrate Pereda
+/. 1 6 c.362G>A - r.(?) p.(Gly121Glu) - - - g.46939393G>A g.46897903G>A - - PTH1R_000012 1 more item PubMed: Couvineau et al. 2008 - - Somatic - - - - - Arrate Pereda
+/. 1 6 c.364G>A - r.(?) p.(Ala122Thr) - - - g.46939395G>A g.46897905G>A - - PTH1R_000014 normal expression but suboptimal agonist-induced cAMP production PubMed: Couvineau et al. 2008 - - Somatic - - - - - Arrate Pereda
+/., +?/. 4 6 c.395C>T - r.(?) p.(Pro132Leu) - - - g.46939426C>T g.46897936C>T c.423C>T - PTH1R_000006 P132L mutation created a receptor, which still possesses low levels of residual activity, 1 more item PubMed: Hoogendam et al. 2007, PubMed: Yamaguchi et al. 2011, PubMed: Zhang et al. 1998 - - Germline, Germline/De novo (untested) yes - - - - Arrate Pereda
+?/. 1 7 c.439C>T - r.(?) p.(Arg147Cys) - - - g.46939578C>T g.46898088C>T - - PTH1R_000020 - PubMed: Yamaguchi et al. 2011 - - Germline/De novo (untested) - - - - - Arrate Pereda
?/., -?/. 2 - c.448C>T VUS, likely benign r.(?) p.(Arg150Cys) - - - g.46939587C>T - PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)) - PTH1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 3 7 c.449G>A - r.(?) p.(Arg150His) - - - g.46939588G>A g.46898098G>A heterozygous C→T change - PTH1R_000007 reduced maximal cAMP production but nomal expression, 1 more item PubMed: Hopyan et al. 2002 - - Germline/De novo (untested), Germline, Somatic no, yes - - - - Arrate Pereda
?/. 1 - c.449G>T VUS r.(?) p.(Arg150Leu) - - - g.46939588G>T - PTH1R(NM_000316.2):c.449G>T (p.R150L) - PTH1R_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 7 c.463G>T - r.(?) p.(Glu155*) - - - g.46939602G>T g.46898112G>T - - PTH1R_000017 - PubMed: Decker et al. 2008 - - Germline/De novo (untested) - - - - - Arrate Pereda
+?/. 1 i7 c.543+1G>A - r.spl? p.Glu182Valfs*20 - - - g.46939683G>A g.46898193G>A - - PTH1R_000016 - PubMed: Decker et al. 2008 - - Germline/De novo (untested) yes - - - - Arrate Pereda
+?/. 4 8 c.557G>A - r.(?) p.(Arg186His) - - - g.46939881G>A g.46898391G>A - - PTH1R_000027 heterozygous: asymptomatic, 1 more item PubMed: Guerreiro et al. 2016 - - Germline yes, - - - - - Arrate Pereda
?/. 3 8 c.572delA - r.(?) p.(Tyr191Serfs*14) - - - g.46939896delA g.46898406delA - - PTH1R_000022 - PubMed: Frazier-Bowers et al. 2014 - - Germline, Germline/De novo (untested) no - - - - Arrate Pereda
-?/. 1 8i c.638+39_638+40insG - r.(=) p.(=) - - - 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 - - - Arrate Pereda
?/. 2 8i c.639-93G>A - r.(=) p.(=) - - - g.46940059G>A g.46898569G>A - - PTH1R_000024 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) yes - - - - Arrate Pereda
?/. 2 9 c.646C>A - r.(?) p.(His216Asn) - - - g.46940159C>A g.46898669C>A - - PTH1R_000026 Healthy PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested) no - - - - Arrate Pereda
+/. 7 9 c.668A>G - r.(?) p.(His223Arg) - - - g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor, 1 more item PubMed: Schipani et al. 1995, PubMed: Schipani et al. 1996, PubMed: Schipani et al. 1999 - - Germline/De novo (untested), Germline yes - - - - Arrate Pereda
+/. 1 9 c.764G>A - r.(?) p.(Arg255His) - - - g.46940277G>A g.46898787G>A - - PTH1R_000013 1 more item PubMed: Couvineau et al. 2008 - - Germline/De novo (untested) - - - - - Arrate Pereda
?/. 1 - c.940T>G VUS r.(?) p.(Phe314Val) - - - g.46940898T>G - PTH1R(NM_000316.2):c.940T>G (p.(Phe314Val)) - PTH1R_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.941T>C VUS r.(?) p.(Phe314Ser) - - - g.46940899T>C - PTH1R(NM_000316.2):c.941T>C (p.(Phe314Ser)) - PTH1R_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 3 11 c.996_997insC - r.(?) p.(Ala333Argfs*66) - - - g.46942522_46942523insC g.46901032_46901033insC - - PTH1R_000021 - PubMed: Frazier-Bowers et al. 2014 - - Germline/De novo (untested), Germline yes - - - - Arrate Pereda
+/. 1 11i c.1049+27G>A - r.[=, 1049_1050ins1049+1_1049+27] p.Cys351* - - - 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 - - - - - Arrate Pereda
+?/. 2 11i, i11 c.1050-3C>G - r.1049_1116del p.Cys351Serfs*133 - - - g.46942901C>G g.46901411C>G - - PTH1R_000015 - PubMed: Decker et al. 2008 - - Germline yes - - - - Arrate Pereda
?/. 1 - c.1069G>A VUS r.(?) p.(Gly357Arg) - - - g.46942923G>A - PTH1R(NM_000316.2):c.1069G>A (p.G357R) - PTH1R_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 12 c.1093delG - r.(?) p.(Val365Cysfs*141) - - - g.46942947delG g.46901457delG c.1122delG - PTH1R_000004 lethal PubMed: Karperien et al. 1999 - - Germline - - - - - Arrate Pereda
?/. 1 - c.1144G>A VUS r.(?) p.(Val382Ile) - - - g.46943283G>A - PTH1R(NM_000316.2):c.1144G>A (p.(Val382Ile)) - PTH1R_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 2 13 c.1148G>A - r.(?), r.1117_1148del p.(Arg383Gln), p.Leu373_Arg383del - - - g.46943287G>A g.46901797G>A G->A, nucleotide 1176 - PTH1R_000005 1 more item PubMed: Yamaguchi et al. 2011, PubMed: Jobert et al. 1998 - - Germline yes - - - - Arrate Pereda
?/. 1 - c.1183G>A VUS r.(?) p.(Gly395Ser) - - - g.46943322G>A - PTH1R(NM_000316.2):c.1183G>A (p.(Gly395Ser)) - PTH1R_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1198C>T VUS r.(?) p.(Arg400Trp) - - - g.46943337C>T - - - PTH1R_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 14 c.1228A>C - r.(?) p.(Thr410Pro) - - - g.46944032A>C g.46902542A>C - - PTH1R_000002 1 more item PubMed: Schipani et al. 1996 - - Germline/De novo (untested) - - - - - Arrate Pereda
+/. 3 14 c.1229C>G - r.(?) p.(Thr410Arg) - - - g.46944033C>G g.46902543C>G - - PTH1R_000008 1 more item PubMed: Bastepe et al. 2004 - - Germline, Germline/De novo (untested) yes - - - - Arrate Pereda
+/., +?/. 4 14i c.1354-1G>A - r.spl? p.? - - - g.46944238G>A g.46902748G>A c.1353-1G>A - PTH1R_000018 - PubMed: Frazier-Bowers et al. 2010 - - Germline, De novo yes - - - - Arrate Pereda
+/. 1 15 c.1373T>G - r.(?) p.(Ile458Arg) - - - g.46944258T>G g.46902768T>G c.1401T>G - PTH1R_000003 1 more item PubMed: Schipani et al. 1999 - - Germline/De novo (untested) - - - - - Arrate Pereda
-/. 6 15 c.1389T>C benign r.(?), r.(=) p.(=) - - - g.46944274T>C g.46902784T>C PTH1R(NM_000316.2):c.1389T>C (p.N463=) - PTH1R_000025 VKGL data sharing initiative Nederland, polymorphism PubMed: Frazier-Bowers et al. 2014 - - CLASSIFICATION record, Germline/De novo (untested) no MAF: 0.36 (T) - - - VKGL-NL_Groningen, Arrate Pereda, VKGL-NL_Nijmegen
+/. 4 16 c.1453C>T - r.(?) p.(Arg485*) - - - g.46944817C>T g.46903327C>T C>T substitution, c.480C>A (p.160K>N), heterozygous C→T change - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - - - Arrate Pereda
?/. 1 - c.1586A>G VUS r.(?) p.(Asn529Ser) - - - g.46944950A>G - PTH1R(NM_000316.2):c.1586A>G (p.(Asn529Ser)) - PTH1R_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend