### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOP10) # 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}}" "NOP10" "NOP10 ribonucleoprotein" "15" "q14-q15" "unknown" "NG_011562.1" "UD_132085352272" "" "http://www.LOVD.nl/NOP10" "The NOP10 (NOLA3) Teleomere Database " "1" "14378" "55505" "606471" "1" "1" "1" "1" "alias NOLA3.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene." "" "g" "http://databases.lovd.nl/shared/refseq/NOP10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-25 14:56:24" "00000" "2023-07-07 10:10:56" ## 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}}" "00014686" "NOP10" "NOP10 ribonucleoprotein homolog (yeast)" "001" "NM_018648.3" "" "NP_061118.1" "" "" "" "-88" "447" "195" "34635362" "34633917" "" "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}}" "01761" "DKCB1" "dyskeratosis congenita, autosomal recessive, type 1 (DKCB-1)" "AR" "224230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NOP10" "01761" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00052951" "" "" "" "3" "" "00006" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00052951" "01761" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01761 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000039676" "01761" "00052951" "00006" "Familial, autosomal recessive" "" "ages diagnosis II2 16y, II3 20y, II5 15y; all reticular skin pigmentation over neck and upper extremities, thickening skin palms/soles; dystrophic changes nails, abnormal dentition (II3, II5 less severe); II2 hypocellular bone marrow with peripheral pancytopenia was only observed; no leukoplakia" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000052899" "00052951" "1" "00006" "00006" "2015-10-26 19:23:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000052899" "NOP10" ## 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 = 18 "{{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}}" "0000082501" "3" "90" "15" "34634264" "34634264" "subst" "0" "00006" "NOP10_000001" "g.34634264G>A" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}, {OMIM606471:0001}" "" "" "significant telomere shortening, reduced telomerase RNA component levels" "Germline" "yes" "rs121908092" "0" "" "" "g.34342063G>A" "" "pathogenic" "" "0000082502" "1" "10" "15" "34635241" "34635241" "subst" "0.0100133" "00006" "NOP10_000002" "g.34635241C>G" "1/171 families" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34343040C>G" "" "benign" "" "0000082503" "1" "10" "15" "34635200" "34635200" "subst" "0.148014" "00006" "NOP10_000003" "g.34635200C>T" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.34342999C>T" "" "benign" "" "0000082504" "1" "10" "15" "34634324" "34634324" "subst" "0.358372" "00006" "NOP10_000004" "g.34634324C>G" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "IVS1-15C>G" "" "Germline" "" "" "0" "" "" "g.34342123C>G" "" "benign" "" "0000082505" "1" "10" "15" "34634139" "34634139" "subst" "0.175841" "00006" "NOP10_000005" "g.34634139T>C" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34341938T>C" "" "benign" "" "0000082506" "1" "10" "15" "34634138" "34634138" "subst" "0.164181" "00006" "NOP10_000006" "g.34634138G>A" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34341937G>A" "" "benign" "" "0000082507" "1" "10" "15" "34634124" "34634124" "subst" "0" "00006" "NOP10_000007" "g.34634124C>A" "" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34341923C>A" "" "benign" "" "0000082508" "1" "10" "15" "34635029" "34635029" "subst" "0" "00006" "NOP10_000008" "g.34635029G>T" "0.31" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "IVS1+192C>A" "" "Germline" "" "" "0" "" "" "g.34342828G>T" "" "benign" "" "0000082509" "1" "10" "15" "34634033" "34634033" "subst" "0" "00006" "NOP10_000009" "g.34634033A>G" "0.12" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34341832A>G" "" "benign" "" "0000082510" "1" "10" "15" "34634020" "34634020" "subst" "0" "00006" "NOP10_000010" "g.34634020C>T" "0.06" "{PMID:Walne 2007:17507419}, {DOI:Walne 2007:10.1093/hmg/ddm111}" "" "" "" "Germline" "" "" "0" "" "" "g.34341819C>T" "" "benign" "" "0000295856" "0" "10" "15" "34629024" "34629024" "subst" "0" "02330" "SLC12A6_000033" "g.34629024C>T" "" "" "" "SLC12A6(NM_133647.2):c.-143G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34336823C>T" "" "benign" "" "0000296517" "0" "10" "15" "34634324" "34634324" "subst" "0.358372" "02325" "NOP10_000004" "g.34634324C>G" "" "" "" "NOP10(NM_018648.4):c.55-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34342123C>G" "" "benign" "" "0000337825" "0" "10" "15" "34634324" "34634324" "subst" "0.358372" "02327" "NOP10_000004" "g.34634324C>G" "" "" "" "NOP10(NM_018648.4):c.55-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34342123C>G" "" "benign" "" "0000554035" "0" "10" "15" "34634020" "34634020" "subst" "0" "01943" "NOP10_000010" "g.34634020C>T" "" "" "" "NOP10(NM_018648.3):c.*149G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34341819C>T" "" "benign" "" "0000615235" "0" "30" "15" "34635241" "34635241" "subst" "0.0100133" "01804" "NOP10_000002" "g.34635241C>G" "" "" "" "NOP10(NM_018648.3):c.34G>C (p.(Asp12His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34343040C>G" "" "likely benign" "" "0000691778" "0" "30" "15" "34634318" "34634318" "subst" "0.000215225" "01943" "C15orf55_000003" "g.34634318G>A" "" "" "" "NOP10(NM_018648.3):c.55-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853980" "0" "30" "15" "34634318" "34634318" "subst" "0.000215225" "02326" "C15orf55_000003" "g.34634318G>A" "" "" "" "NOP10(NM_018648.3):c.55-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930371" "0" "30" "15" "34634319" "34634319" "subst" "0.000661924" "02326" "C15orf55_000004" "g.34634319G>T" "" "" "" "NOP10(NM_018648.3):c.55-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 NOP10 ## Count = 18 "{{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}}" "0000082501" "00014686" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Trp)" "2" "0000082502" "00014686" "10" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Asp12His)" "1" "0000082503" "00014686" "10" "54" "21" "54" "21" "c.54+21G>A" "r.(?)" "p.(=)" "1i" "0000082504" "00014686" "10" "55" "-15" "55" "-15" "c.55-15G>C" "r.(?)" "p.(=)" "1" "0000082505" "00014686" "10" "225" "0" "225" "0" "c.*30A>G" "r.(=)" "p.(=)" "2" "0000082506" "00014686" "10" "226" "0" "226" "0" "c.*31C>T" "r.(=)" "p.(=)" "2" "0000082507" "00014686" "10" "240" "0" "240" "0" "c.*45G>T" "r.(=)" "p.(=)" "2" "0000082508" "00014686" "10" "54" "192" "54" "192" "c.54+192C>A" "r.(?)" "p.(=)" "1i" "0000082509" "00014686" "10" "331" "0" "331" "0" "c.*136T>C" "r.(=)" "p.(=)" "2" "0000082510" "00014686" "10" "344" "0" "344" "0" "c.*149G>A" "r.(=)" "p.(=)" "2" "0000295856" "00014686" "10" "5340" "0" "5340" "0" "c.*5145G>A" "r.(=)" "p.(=)" "" "0000296517" "00014686" "10" "55" "-15" "55" "-15" "c.55-15G>C" "r.(=)" "p.(=)" "" "0000337825" "00014686" "10" "55" "-15" "55" "-15" "c.55-15G>C" "r.(=)" "p.(=)" "" "0000554035" "00014686" "10" "344" "0" "344" "0" "c.*149G>A" "r.(=)" "p.(=)" "" "0000615235" "00014686" "30" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Asp12His)" "" "0000691778" "00014686" "30" "55" "-9" "55" "-9" "c.55-9C>T" "r.(=)" "p.(=)" "" "0000853980" "00014686" "30" "55" "-9" "55" "-9" "c.55-9C>T" "r.(=)" "p.(=)" "" "0000930371" "00014686" "30" "55" "-10" "55" "-10" "c.55-10C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000052899" "0000082501"