### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NT5C2) # 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}}" "NT5C2" "5\'-nucleotidase, cytosolic II" "10" "q24.32" "unknown" "NC_000010.10" "UD_136021437314" "" "https://www.LOVD.nl/NT5C2" "" "1" "8022" "22978" "600417" "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/NT5C2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-06 10:46:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00014855" "NT5C2" "transcript variant 1" "002" "NM_012229.4" "" "NP_036361.1" "" "" "" "-193" "3341" "1686" "104953063" "104847774" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03272" "SPG45" "paraplegia, spastic, type 45, autosomal recessive (SPG-45)" "AR" "613162" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 1 "{{geneid}}" "{{diseaseid}}" "NT5C2" "03272" ## 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}}" "00095069" "" "" "" "3" "" "00080" "{PMID:Darvish 2018:29123918}" "2-generation family, 3 affecteds (2F, M), unaffected carrier parents parents/sibs" "M" "yes" "Iran" "" "0" "" "" "Asian" "29123918-Fam" "00095094" "" "" "" "3" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "" "00095151" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "" "00095152" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "5-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "" "00095153" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "" "00095154" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "" "00269875" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00289986" "" "" "" "199" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304231" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00403851" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF004" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00095069" "03272" "00095094" "03272" "00095151" "00198" "00095152" "00198" "00095153" "00198" "00095154" "00198" "00269875" "00198" "00289986" "00198" "00304231" "00198" "00403851" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03272, 05611 ## Count = 8 "{{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}}" "0000073477" "03272" "00095069" "00080" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000073488" "03272" "00095094" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000073548" "00198" "00095151" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000073549" "00198" "00095152" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000073550" "00198" "00095153" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000073551" "00198" "00095154" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000207671" "00198" "00269875" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Spastic paraplegia (HP:0001258); Attention deficit hyperactivity disorder (HP:0007018); Aggressive behavior (HP:0000718); Dysphagia (HP:0002015)" "" "" "" "" "" "" "" "" "" "" "" "0000296531" "05611" "00403851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## 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}}" "0000095467" "00095069" "1" "00080" "00080" "2017-01-05 22:43:12" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095493" "00095094" "1" "00006" "00006" "2017-01-06 11:20:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095549" "00095151" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095550" "00095152" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095551" "00095153" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095552" "00095154" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000271028" "00269875" "1" "01807" "01807" "2019-12-10 12:31:15" "" "" "SEQ" "DNA" "" "" "0000291154" "00289986" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305360" "00304231" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000405089" "00403851" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000095493" "NT5C2" "0000095549" "NT5C2" "0000095550" "NT5C2" "0000095551" "NT5C2" "0000095552" "NT5C2" ## 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 = 14 "{{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}}" "0000154029" "3" "70" "10" "104854510" "104856474" "del" "0" "00080" "NT5C2_000001" "g.104854510_104856474del" "" "{PMID:Darvish 2018:29123918}" "" "NG_042272.1:g.101589_103554del" "" "Germline" "yes" "" "0" "" "" "g.103094753_103096717del" "" "likely pathogenic" "" "0000154055" "3" "90" "10" "104934630" "104934630" "subst" "0" "00006" "NT5C2_000002" "g.104934630C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM600417:0001}" "" "G86A" "" "Germline" "yes" "rs587777173" "0" "" "" "g.103174873C>T" "" "pathogenic" "" "0000154123" "3" "90" "10" "104861028" "104861028" "subst" "0" "00006" "NT5C2_000003" "g.104861028T>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM600417:0004}" "" "A445T" "" "Germline" "yes" "rs587777174" "0" "" "" "g.103101271T>A" "" "pathogenic" "" "0000154124" "3" "90" "10" "104853067" "104853067" "subst" "0" "00006" "NT5C2_000004" "g.104853067C>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM600417:0003}" "" "988-1G>T" "" "Germline" "yes" "rs886037657" "0" "" "" "g.103093310C>A" "" "pathogenic" "" "0000154125" "3" "90" "10" "104850740" "104850740" "del" "0" "00006" "NT5C2_000005" "g.104850740del" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM600417:0002}" "" "104850739CT>C" "" "Germline" "yes" "rs886037656" "0" "" "" "g.103090983del" "" "pathogenic" "" "0000154126" "3" "90" "10" "104899162" "104899162" "subst" "0" "00006" "NT5C2_000006" "g.104899162C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM600417:0005}" "" "" "" "Germline" "yes" "rs886037658" "0" "" "" "g.103139405C>T" "" "pathogenic" "" "0000624874" "3" "90" "10" "104850478" "104850478" "dup" "0" "01807" "NT5C2_000009" "g.104850478dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.103090721dup" "" "pathogenic" "" "0000647843" "1" "10" "10" "104934709" "104934709" "subst" "0.117943" "03575" "NT5C2_000010" "g.104934709T>C" "199/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "199 heterozygous; {DB:CLININrs10883841}" "Germline" "" "rs10883841" "0" "" "" "g.103174952T>C" "" "benign" "" "0000669048" "3" "10" "10" "104934709" "104934709" "subst" "0.117943" "03575" "NT5C2_000010" "g.104934709T>C" "8/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs10883841}" "Germline" "" "rs10883841" "0" "" "" "g.103174952T>C" "" "benign" "" "0000678763" "0" "10" "10" "104941106" "104941106" "dup" "0" "02326" "NT5C2_000008" "g.104941106dup" "" "" "" "NT5C2(NM_001351187.1):c.-993-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722657" "0" "30" "10" "104850392" "104850392" "subst" "0" "01943" "NT5C2_000011" "g.104850392G>A" "" "" "" "NT5C2(NM_001351179.1):c.852C>T (p.Y284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804280" "0" "50" "10" "104849450" "104849450" "subst" "0.000183376" "01943" "NT5C2_000012" "g.104849450C>A" "" "" "" "NT5C2(NM_001351179.1):c.1092G>T (p.E364D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000841150" "3" "90" "10" "104850478" "104850478" "dup" "0" "00006" "NT5C2_000009" "g.104850478dup" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.103090721dup" "" "pathogenic (recessive)" "" "0001053700" "0" "50" "10" "104854127" "104854127" "subst" "0" "01804" "NT5C2_000013" "g.104854127G>A" "" "" "" "NT5C2(NM_001351169.2):c.899C>T (p.(Thr300Ile))" "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 NT5C2 ## Count = 14 "{{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}}" "0000154029" "00014855" "70" "771" "576" "814" "-296" "c.771+576_814-296del" "r.?" "p.(Lys258_Lys271del)" "11i_12i" "0000154055" "00014855" "90" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Gln)" "3" "0000154123" "00014855" "90" "445" "0" "445" "0" "c.445A>T" "r.(?)" "p.(Arg149*)" "" "0000154124" "00014855" "90" "989" "-1" "989" "-1" "c.989-1G>T" "r.spl?" "p.?" "14i" "0000154125" "00014855" "90" "1225" "0" "1225" "0" "c.1225del" "r.(?)" "p.(Ser409Valfs*18)" "17" "0000154126" "00014855" "90" "175" "1" "175" "1" "c.175+1G>A" "r.spl" "p.?" "4i" "0000624874" "00014855" "90" "1339" "0" "1339" "0" "c.1339dup" "r.(?)" "p.(Gln447ProfsTer13)" "" "0000647843" "00014855" "10" "7" "0" "7" "0" "c.7A>G" "r.(?)" "p.(Thr3Ala)" "" "0000669048" "00014855" "10" "7" "0" "7" "0" "c.7A>G" "r.(?)" "p.(Thr3Ala)" "" "0000678763" "00014855" "10" "-122" "-8" "-122" "-8" "c.-122-8dup" "r.(=)" "p.(=)" "" "0000722657" "00014855" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Tyr475=)" "" "0000804280" "00014855" "50" "1665" "0" "1665" "0" "c.1665G>T" "r.(?)" "p.(Glu555Asp)" "" "0000841150" "00014855" "90" "1339" "0" "1339" "0" "c.1339dup" "r.(?)" "p.(Gln447ProfsTer13)" "" "0001053700" "00014855" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000095467" "0000154029" "0000095493" "0000154055" "0000095549" "0000154126" "0000095550" "0000154125" "0000095551" "0000154124" "0000095552" "0000154123" "0000271028" "0000624874" "0000291154" "0000647843" "0000305360" "0000669048" "0000405089" "0000841150"