### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRD5A3) # 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}}" "SRD5A3" "steroid 5 alpha-reductase 3" "4" "q12" "unknown" "NG_028230.1" "UD_132118383462" "" "http://www.LOVD.nl/SRD5A3" "Congenital Disorder of Glycosylation pages " "1" "25812" "79644" "611715" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SRD5A3_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2015-03-20 19:50:46" "00000" "2025-05-05 21:14:00" ## 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}}" "00020277" "SRD5A3" "steroid 5 alpha-reductase 3" "001" "NM_024592.4" "" "NP_078868.1" "" "" "" "-116" "3966" "957" "56212388" "56239267" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00902" "CDG1Q" "glycosylation, congenital disorder of, type Iq (CDG-1Q)" "AR" "612379" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00903" "KHRZ" "Kahrizi syndrome (KHRZ)" "AR" "612713" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SRD5A3" "00139" "SRD5A3" "00902" "SRD5A3" "00903" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00209007" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat10" "00269905" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00288324" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00293632" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317998" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR115" "00382153" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "59" "00382154" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "60" "00383460" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00403882" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF105" "00428231" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "Fam11PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00209007" "00198" "00269905" "00198" "00288324" "00198" "00293632" "00198" "00317998" "00139" "00382153" "00902" "00382154" "00902" "00383460" "04214" "00403882" "05611" "00428231" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00902, 00903, 04214, 05611 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000157612" "00198" "00209007" "00006" "Familial, autosomal recessive" "" "Complex neurological phenotype" "" "" "" "" "" "" "" "" "CDG-1Q" "complex neurological phenotype" "" "0000207701" "00198" "00269905" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Inability to walk (HP:0002540); Dysphagia (HP:0002015); Developmental glaucoma (HP:0001087)" "" "" "" "" "" "" "" "" "" "" "" "0000222028" "00198" "00288324" "01807" "Unknown" "" "Cleft palate (HP:0000175); Long philtrum (HP:0000343); Micrognathia (HP:0000347); Hypoplasia of the thymus (HP:0000778); Insulin resistance (HP:0000855); Intrauterine growth retardation (HP:0001511); Enlarged cisterna magna (HP:0002280); Arthrogryposis multiplex congenita (HP:0002804); Hyperglycemia (HP:0003074); Ichthyosis (HP:0008064); Transient neonatal diabetes mellitus (HP:0008255); Camptodactyly (HP:0012385)" "" "" "" "" "" "" "" "" "" "" "" "0000241782" "00139" "00317998" "00006" "Familial, autosomal recessive" "" "Not available" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000275995" "00902" "00382153" "00000" "Familial, autosomal recessive" "" "Oculocutaneous albinism and others; MIM, 612379 or 612713" "" "" "" "" "" "" "" "" "" "MIM, 612379 or 612713" "" "0000275996" "00902" "00382154" "00000" "Familial, autosomal recessive" "" "Oculocutaneous albinism and others; MIM, 612379 or 612713" "" "" "" "" "" "" "" "" "" "MIM, 612379 or 612713" "" "0000277245" "04214" "00383460" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy, developmental delay, and ichthyosis" "" "0000296562" "05611" "00403882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000319143" "00198" "00428231" "00006" "Familial, autosomal recessive" "2m" "reduced fetal movements, intrauterine growth restriction, human tail, hypertrichosis; contractures elbows, wrists, fingers, hips, knees; micrognathia and retrognathia, dysplastic low-set ears, thin upper lip, sacral human tail, cleft palate, camptodactyly; muscular hypertonia, wide cisterna magna, pathological oculomotor function and otoacoustic emissions; respiratory insufficiency, non-invasive ventilation, laryngomalacia, retinal coloboma, myocardial hypertrophy, myocardial infarction, thymic hypoplasia, hyperglycaemia, insulin resistance, ichthyosis, cryptorchidism" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000210064" "00209007" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000271058" "00269905" "1" "01807" "01807" "2019-12-10 12:32:20" "" "" "SEQ" "DNA" "" "" "0000289493" "00288324" "1" "01807" "01807" "2020-02-19 14:22:13" "" "" "SEQ" "DNA" "" "" "0000294800" "00293632" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319180" "00317998" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000383369" "00382153" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383370" "00382154" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000384685" "00383460" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000405120" "00403882" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429642" "00428231" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000210064" "SRD5A3" "0000319180" "SRD5A3" "0000383369" "SRD5A3" "0000383370" "SRD5A3" "0000384685" "SRD5A3" ## 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 = 31 "{{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}}" "0000314122" "0" "50" "4" "56236252" "56236256" "del" "0" "02326" "SRD5A3_000004" "g.56236252_56236256del" "" "" "" "SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55370085_55370089del" "" "VUS" "" "0000329936" "0" "50" "4" "56230311" "56230312" "ins" "0" "01804" "SRD5A3_000002" "g.56230311_56230312insA" "" "" "" "SRD5A3(NM_024592.4):c.435_436insA (p.(Glu146ArgfsTer74))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55364144_55364145insA" "" "VUS" "" "0000441242" "3" "90" "4" "56212560" "56212560" "subst" "0.000125079" "00006" "SRD5A3_000005" "g.56212560G>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.55346393G>A" "" "pathogenic (recessive)" "" "0000522689" "0" "90" "4" "56212532" "56212532" "subst" "0" "02327" "SRD5A3_000006" "g.56212532C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55346365C>A" "" "pathogenic" "" "0000522690" "0" "30" "4" "56212555" "56212555" "subst" "0" "01943" "SRD5A3_000007" "g.56212555G>A" "" "" "" "SRD5A3(NM_024592.4):c.52G>A (p.V18M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55346388G>A" "" "likely benign" "" "0000609239" "0" "30" "4" "56212611" "56212611" "subst" "0.000428835" "01943" "SRD5A3_000009" "g.56212611G>T" "" "" "" "SRD5A3(NM_024592.4):c.108G>T (p.P36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55346444G>T" "" "likely benign" "" "0000609240" "0" "30" "4" "56212626" "56212626" "subst" "3.01896E-5" "01943" "SRD5A3_000010" "g.56212626G>A" "" "" "" "SRD5A3(NM_024592.4):c.123G>A (p.P41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55346459G>A" "" "likely benign" "" "0000609241" "0" "50" "4" "56230336" "56230336" "subst" "0" "02327" "SRD5A3_000011" "g.56230336T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55364169T>C" "" "VUS" "" "0000621398" "0" "30" "4" "56233887" "56233887" "subst" "4.06362E-6" "01943" "SRD5A3_000003" "g.56233887C>A" "" "" "" "SRD5A3(NM_024592.4):c.695C>A (p.A232E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55367720C>A" "" "likely benign" "" "0000621399" "0" "50" "4" "56236252" "56236256" "del" "0" "01943" "SRD5A3_000004" "g.56236252_56236256del" "" "" "" "SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55370085_55370089del" "" "VUS" "" "0000624906" "3" "90" "4" "56225611" "56225611" "subst" "0" "01807" "SRD5A3_000012" "g.56225611G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55359444G>A" "" "pathogenic" "" "0000645464" "3" "50" "4" "56236130" "56236130" "subst" "0" "01807" "SRD5A3_000013" "g.56236130T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55369963T>C" "" "VUS" "" "0000651489" "1" "90" "4" "56212560" "56212560" "subst" "0.000125079" "03575" "SRD5A3_000005" "g.56212560G>A" "2/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398124401}" "Germline" "" "rs398124401" "0" "" "" "g.55346393G>A" "" "pathogenic" "" "0000677291" "0" "30" "4" "56233758" "56233758" "subst" "0.000305044" "01943" "SRD5A3_000014" "g.56233758A>C" "" "" "" "SRD5A3(NM_024592.4):c.566A>C (p.Y189S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677292" "0" "50" "4" "56236252" "56236256" "del" "0" "02325" "SRD5A3_000004" "g.56236252_56236256del" "" "" "" "SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701844" "3" "50" "4" "56212560" "56212560" "subst" "0.000125079" "00006" "SRD5A3_000005" "g.56212560G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.55346393G>A" "" "VUS" "" "0000797430" "3" "70" "4" "56212560" "56212560" "subst" "0.000125079" "00000" "SRD5A3_000005" "g.56212560G>A" "" "{PMID:Patel 2019:30653986}" "" "c.57G-->A; p.Trp19*" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.55346393G>A" "" "likely pathogenic" "" "0000797431" "3" "70" "4" "56212560" "56212560" "subst" "0.000125079" "00000" "SRD5A3_000005" "g.56212560G>A" "" "{PMID:Patel 2019:30653986}" "" "c.57G-->A; p.Trp19*" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.55346393G>A" "" "likely pathogenic" "" "0000801654" "0" "30" "4" "56212498" "56212498" "subst" "0.000139402" "02330" "SRD5A3_000015" "g.56212498C>T" "" "" "" "SRD5A3(NM_024592.5):c.-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801655" "0" "50" "4" "56236089" "56236089" "subst" "0" "01943" "SRD5A3_000016" "g.56236089A>G" "" "" "" "SRD5A3(NM_024592.4):c.788A>G (p.Y263C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811446" "3" "70" "4" "56225577" "56225579" "delins" "0" "00000" "SRD5A3_000017" "g.56225577_56225579delinsTGAGTAAGGC" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.286_288delinsTGAGTAAGGC (p.Gln96*), Allele 2 c.286_288delinsTGAGTAAGGC" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.55359410_55359412delinsTGAGTAAGGC" "" "likely pathogenic" "" "0000841181" "3" "90" "4" "56225611" "56225611" "subst" "0" "00006" "SRD5A3_000012" "g.56225611G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.55359444G>A" "" "pathogenic (recessive)" "" "0000909227" "3" "70" "4" "56236130" "56236130" "subst" "0" "00006" "SRD5A3_000013" "g.56236130T>C" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.55369963T>C" "" "likely pathogenic (recessive)" "" "0000924121" "0" "90" "4" "56212560" "56212560" "subst" "0.000125079" "02330" "SRD5A3_000005" "g.56212560G>A" "" "" "" "SRD5A3(NM_024592.5):c.57G>A (p.W19*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948332" "0" "30" "4" "56225674" "56225674" "subst" "0.000821165" "02330" "SRD5A3_000018" "g.56225674T>C" "" "" "" "SRD5A3(NM_024592.5):c.364+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948333" "0" "70" "4" "56230414" "56230414" "subst" "0" "02329" "SRD5A3_000019" "g.56230414C>T" "" "" "" "SRD5A3(NM_024592.5):c.538C>T (p.Q180*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976314" "0" "50" "4" "56225550" "56225550" "subst" "4.06068E-6" "01804" "SRD5A3_000020" "g.56225550A>G" "" "" "" "SRD5A3(NM_024592.5):c.259A>G (p.(Asn87Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994340" "0" "70" "4" "56236153" "56236153" "dup" "0" "01804" "SRD5A3_000021" "g.56236153dup" "" "" "" "SRD5A3(NM_024592.4):c.852dupC (p.(Phe285fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034589" "0" "50" "4" "56212504" "56212504" "subst" "0" "01804" "SRD5A3_000022" "g.56212504A>G" "" "" "" "SRD5A3(NM_024592.5):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034590" "0" "30" "4" "56233899" "56233899" "subst" "0" "01804" "SRD5A3_000023" "g.56233899C>A" "" "" "" "SRD5A3(NM_024592.5):c.697+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034591" "0" "50" "4" "56236252" "56236256" "del" "0" "01804" "SRD5A3_000004" "g.56236252_56236256del" "" "" "" "SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...)" "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 SRD5A3 ## Count = 31 "{{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}}" "0000314122" "00020277" "50" "951" "0" "955" "0" "c.951_955del" "r.(?)" "p.(Phe318SerfsTer2)" "" "0000329936" "00020277" "50" "435" "0" "436" "0" "c.435_436insA" "r.(?)" "p.(Glu146ArgfsTer74)" "" "0000441242" "00020277" "90" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0000522689" "00020277" "90" "29" "0" "29" "0" "c.29C>A" "r.(?)" "p.(Ser10Ter)" "" "0000522690" "00020277" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Val18Met)" "" "0000609239" "00020277" "30" "108" "0" "108" "0" "c.108G>T" "r.(?)" "p.(Pro36=)" "" "0000609240" "00020277" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Pro41=)" "" "0000609241" "00020277" "50" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Ser154Pro)" "" "0000621398" "00020277" "30" "695" "0" "695" "0" "c.695C>A" "r.(?)" "p.(Ala232Glu)" "" "0000621399" "00020277" "50" "951" "0" "955" "0" "c.951_955del" "r.(?)" "p.(Phe318SerfsTer2)" "" "0000624906" "00020277" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Trp107Ter)" "" "0000645464" "00020277" "50" "829" "0" "829" "0" "c.829T>C" "r.(?)" "p.(Trp277Arg)" "" "0000651489" "00020277" "90" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0000677291" "00020277" "30" "566" "0" "566" "0" "c.566A>C" "r.(?)" "p.(Tyr189Ser)" "" "0000677292" "00020277" "50" "951" "0" "955" "0" "c.951_955del" "r.(?)" "p.(Phe318SerfsTer2)" "" "0000701844" "00020277" "50" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.Trp19*" "" "0000797430" "00020277" "70" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0000797431" "00020277" "70" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0000801654" "00020277" "30" "-6" "0" "-6" "0" "c.-6C>T" "r.(?)" "p.(=)" "" "0000801655" "00020277" "50" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Tyr263Cys)" "" "0000811446" "00020277" "70" "286" "0" "288" "0" "c.286_288delinsTGAGTAAGGC" "r.(?)" "p.(Gln96*)" "" "0000841181" "00020277" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Trp107Ter)" "" "0000909227" "00020277" "70" "829" "0" "829" "0" "c.829T>C" "r.(?)" "p.(Trp277Arg)" "" "0000924121" "00020277" "90" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Trp19*)" "" "0000948332" "00020277" "30" "364" "19" "364" "19" "c.364+19T>C" "r.(=)" "p.(=)" "" "0000948333" "00020277" "70" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "" "0000976314" "00020277" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Asn87Asp)" "" "0000994340" "00020277" "70" "852" "0" "852" "0" "c.852dup" "r.(?)" "p.(Phe285Leufs*3)" "" "0001034589" "00020277" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001034590" "00020277" "30" "697" "10" "697" "10" "c.697+10C>A" "r.(=)" "p.(=)" "" "0001034591" "00020277" "50" "951" "0" "955" "0" "c.951_955del" "r.(?)" "p.(Phe318SerfsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000210064" "0000441242" "0000271058" "0000624906" "0000289493" "0000645464" "0000294800" "0000651489" "0000319180" "0000701844" "0000383369" "0000797430" "0000383370" "0000797431" "0000384685" "0000811446" "0000405120" "0000841181" "0000429642" "0000909227"