### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDE3A) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PDE3A" "phosphodiesterase 3A, cGMP-inhibited" "12" "p12.2" "unknown" "NG_030033.1" "UD_136022861297" "" "http://www.LOVD.nl/PDE3A" "" "1" "8778" "5139" "123805" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PDE3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 21:28:03" "00000" "2022-05-09 15:51:19" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015875" "PDE3A" "transcript variant 1" "001" "NM_000921.4" "" "NP_000912.3" "" "" "" "-40" "7262" "3426" "20522179" "20837041" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04610" "HTNB" "hypertension and brachydactyly syndrome (HTNB)" "AD" "112410" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDE3A" "04610" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00080742" "" "" "" "45" "" "01744" "{PMID:Maass 2015:25961942}" "7-generation family, 45 affected" "F;M" "" "Turkey" "" "0" "" "" "" "" "00080776" "" "" "" "4" "" "01744" "{PMID:Maass 2015:25961942}" "2-generation family, 4 affected" "F;M" "" "France" "" "0" "" "" "" "" "00080777" "" "" "" "8" "" "01744" "{PMID:Maass 2015:25961942}" "5-geneation family, 8 affected" "F;M" "" "United States" "" "0" "" "" "" "" "00080778" "" "" "" "1" "" "01744" "{PMID:Maass 2015:25961942}" "Sporadic patient" "F" "" "South Africa" "" "0" "" "" "" "" "00080779" "" "" "" "6" "" "01744" "{PMID:Maass 2015:25961942}" "3-generation family, 6 affected" "F;M" "" "Canada" "" "0" "" "" "" "" "00080780" "" "" "" "6" "" "01744" "{PMID:Maass 2015:25961942}" "3-generation family, 6 affected" "F;M" "" "Canada" "" "0" "" "" "" "" "00080782" "" "" "" "4" "" "01744" "{PMID:Boda 2016:27053290}" "3 generation family, 4 affected" "F;M" "" "Japan" "" "0" "" "" "" "" "00086967" "" "" "" "3" "" "01744" "{PMID:van den Born 2016:27633875}" "2-generation family, 3 affected (proband: daughter; mother; brother)" "F;M" "" "Netherlands" "" "0" "" "thiazide diuretic, an angiotensin-converting enzyme inhibitor" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00080742" "04610" "00080776" "04610" "00080777" "04610" "00080778" "04610" "00080779" "04610" "00080780" "04610" "00080782" "04610" "00086967" "04610" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04610 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Growth}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061063" "04610" "00080776" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061064" "04610" "00080778" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061065" "04610" "00080779" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061066" "04610" "00080782" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061067" "04610" "00080777" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061068" "04610" "00080780" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000066568" "04610" "00086967" "01744" "Familial, autosomal dominant" "" "18y:>200/120 mm Hg; left-sided hemiparesis; short-statured (143 cm); brachydactyly type E (generalized shortening); cone-shaped epiphyses" "" "12y" "" "" "" "" "37y" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080855" "00080742" "1" "01744" "01744" "2016-09-09 17:03:06" "" "" "FISH;SEQ;SEQ-NG;Western" "DNA;protein" "" "" "0000080888" "00080776" "1" "01744" "01744" "2016-09-12 17:21:28" "" "" "SEQ" "DNA" "" "" "0000080889" "00080777" "1" "01744" "01744" "2016-09-12 17:42:59" "" "" "SEQ" "DNA" "" "" "0000080890" "00080778" "1" "01744" "01744" "2016-09-12 17:54:45" "" "" "SEQ" "DNA" "" "" "0000080891" "00080779" "1" "01744" "01744" "2016-09-12 17:59:28" "" "" "SEQ" "DNA" "" "" "0000080892" "00080780" "1" "01744" "01744" "2016-09-12 18:02:10" "" "" "SEQ" "DNA" "" "" "0000080894" "00080782" "1" "01744" "01744" "2016-09-13 10:51:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000087104" "00086967" "1" "01744" "01744" "2016-11-10 09:34:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000080855" "PDE3A" "0000080888" "PDE3A" "0000080889" "PDE3A" "0000080890" "PDE3A" "0000080891" "PDE3A" "0000080892" "PDE3A" "0000080894" "PDE3A" "0000087104" "PDE3A" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 20 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000129913" "0" "90" "12" "20769228" "20769228" "subst" "0" "01744" "PDE3A_000001" "g.20769228C>A" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616294C>A" "" "pathogenic" "" "0000129948" "0" "90" "12" "20769227" "20769227" "subst" "0" "01744" "PDE3A_000005" "g.20769227A>G" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616293A>G" "" "pathogenic" "" "0000129949" "0" "90" "12" "20769228" "20769228" "subst" "0" "01744" "PDE3A_000006" "g.20769228C>G" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616294C>G" "" "pathogenic" "" "0000129950" "0" "90" "12" "20769233" "20769233" "subst" "0" "01744" "PDE3A_000002" "g.20769233G>A" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "De novo" "" "" "0" "" "" "g.20616299G>A" "" "pathogenic" "" "0000129951" "0" "90" "12" "20769240" "20769240" "subst" "0" "01744" "PDE3A_000003" "g.20769240G>T" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616306G>T" "" "pathogenic" "" "0000129952" "0" "90" "12" "20769234" "20769234" "subst" "0" "01744" "PDE3A_000008" "g.20769234C>T" "" "{PMID:Maass et al. 2015:25961942}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616300C>T" "" "pathogenic" "" "0000129954" "0" "70" "12" "20769230" "20769230" "subst" "0" "01744" "PDE3A_000004" "g.20769230T>C" "" "{PMID:Boda et al. 2016:27053290}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616296T>C" "" "likely pathogenic" "" "0000139877" "21" "90" "12" "20769240" "20769240" "subst" "0" "01744" "PDE3A_000007" "g.20769240G>A" "" "{PMID:van den Born et al. 2016:27633875}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20616306G>A" "" "pathogenic" "" "0000256031" "0" "50" "12" "20522897" "20522897" "subst" "0" "01943" "PDE3A_000009" "g.20522897A>C" "" "" "" "PDE3A(NM_000921.4):c.679A>C (p.I227L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20369963A>C" "" "VUS" "" "0000305325" "0" "50" "12" "20523148" "20523148" "subst" "0.00000874914" "01943" "PDE3A_000010" "g.20523148G>T" "" "" "" "PDE3A(NM_000921.4):c.930G>T (p.R310S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20370214G>T" "" "VUS" "" "0000547344" "0" "30" "12" "20522514" "20522514" "subst" "0.00289906" "01804" "PDE3A_000011" "g.20522514A>C" "" "" "" "PDE3A(NM_000921.4):c.296A>C (p.(Glu99Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20369580A>C" "" "likely benign" "" "0000547345" "0" "30" "12" "20522796" "20522796" "subst" "0.00325457" "01804" "PDE3A_000012" "g.20522796T>C" "" "" "" "PDE3A(NM_000921.4):c.578T>C (p.(Val193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20369862T>C" "" "likely benign" "" "0000547346" "0" "30" "12" "20787932" "20787932" "subst" "0.000028478" "01804" "PDE3A_000013" "g.20787932A>T" "" "" "" "PDE3A(NM_000921.4):c.1943A>T (p.(Glu648Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20634998A>T" "" "likely benign" "" "0000613991" "0" "30" "12" "20522723" "20522723" "subst" "0.0000254994" "01804" "PDE3A_000014" "g.20522723G>C" "" "" "" "PDE3A(NM_000921.4):c.505G>C (p.(Gly169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20369789G>C" "" "likely benign" "" "0000691305" "0" "70" "12" "20801785" "20801785" "subst" "0" "02325" "PDE3A_000015" "g.20801785T>C" "" "" "" "PDE3A(NM_000921.4):c.2729T>C (p.L910P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723958" "0" "30" "12" "20769270" "20769270" "subst" "0.0014772" "01804" "PDE3A_000016" "g.20769270G>A" "" "" "" "PDE3A(NM_000921.4):c.1376G>A (p.(Arg459Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723959" "0" "30" "12" "20774295" "20774295" "subst" "0.000750041" "01804" "PDE3A_000017" "g.20774295A>G" "" "" "" "PDE3A(NM_000921.4):c.1490A>G (p.(Tyr497Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723960" "0" "30" "12" "20799716" "20799716" "subst" "0.000044742" "01804" "PDE3A_000018" "g.20799716G>A" "" "" "" "PDE3A(NM_000921.4):c.2397G>A (p.(Met799Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805651" "0" "30" "12" "20786667" "20786667" "subst" "0.000570149" "01804" "PDE3A_000019" "g.20786667C>A" "" "" "" "PDE3A(NM_000921.4):c.1801C>A (p.(Pro601Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862931" "0" "50" "12" "20522888" "20522888" "subst" "0.00000413705" "01804" "PDE3A_000020" "g.20522888G>C" "" "" "" "PDE3A(NM_000921.4):c.670G>C (p.(Val224Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PDE3A ## Count = 20 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "0000129913" "00015875" "90" "1334" "0" "1334" "0" "c.1334C>A" "r.(?)" "p.(Thr445Asn)" "4" "" "" "" "0000129948" "00015875" "90" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Thr445Ala)" "4" "" "" "" "0000129949" "00015875" "90" "1334" "0" "1334" "0" "c.1334C>G" "r.(?)" "p.(Thr445Ser)" "4" "" "" "" "0000129950" "00015875" "90" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Ala447Thr)" "4" "" "" "" "0000129951" "00015875" "90" "1346" "0" "1346" "0" "c.1346G>T" "r.(?)" "p.(Gly449Val)" "4" "" "" "" "0000129952" "00015875" "90" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Ala447Val)" "4" "" "" "" "0000129954" "00015875" "70" "1336" "0" "1336" "0" "c.1336T>C" "r.(?)" "p.(Ser446Pro)" "4" "" "" "" "0000139877" "00015875" "90" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Gly449Asp)" "4" "" "" "" "0000256031" "00015875" "50" "679" "0" "679" "0" "c.679A>C" "r.(?)" "p.(Ile227Leu)" "" "" "" "" "0000305325" "00015875" "50" "930" "0" "930" "0" "c.930G>T" "r.(?)" "p.(Arg310Ser)" "" "" "" "" "0000547344" "00015875" "30" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Glu99Ala)" "" "" "" "" "0000547345" "00015875" "30" "578" "0" "578" "0" "c.578T>C" "r.(?)" "p.(Val193Ala)" "" "" "" "" "0000547346" "00015875" "30" "1943" "0" "1943" "0" "c.1943A>T" "r.(?)" "p.(Glu648Val)" "" "" "" "" "0000613991" "00015875" "30" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Gly169Arg)" "" "" "" "" "0000691305" "00015875" "70" "2729" "0" "2729" "0" "c.2729T>C" "r.(?)" "p.(Leu910Pro)" "" "" "" "" "0000723958" "00015875" "30" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "" "" "" "0000723959" "00015875" "30" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "" "" "" "0000723960" "00015875" "30" "2397" "0" "2397" "0" "c.2397G>A" "r.(?)" "p.(Met799Ile)" "" "" "" "" "0000805651" "00015875" "30" "1801" "0" "1801" "0" "c.1801C>A" "r.(?)" "p.(Pro601Thr)" "" "" "" "" "0000862931" "00015875" "50" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Val224Leu)" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000080855" "0000129913" "0000080888" "0000129948" "0000080889" "0000129949" "0000080890" "0000129950" "0000080891" "0000129951" "0000080892" "0000129952" "0000080894" "0000129954" "0000087104" "0000139877"