### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR2C) # 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}}" "POLR2C" "polymerase (RNA) II (DNA directed) polypeptide C, 33kDa" "16" "q13-q21" "unknown" "NC_000016.9" "UD_132378520841" "" "https://www.LOVD.nl/POLR2C" "" "1" "9189" "5432" "180663" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-01 10:27:50" "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}}" "00016503" "POLR2C" "polymerase (RNA) II (DNA directed) polypeptide C, 33kDa" "001" "NM_032940.2" "" "NP_116558.1" "" "" "" "-86" "1718" "828" "57496551" "57505921" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00295635" "" "" "" "5" "" "03626" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "4-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "30y" "0" "" "" "" "FamPatIII1" "00431193" "" "" "00295635" "1" "" "03626" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "FamPatIII4" "00431194" "" "" "00295635" "1" "" "03626" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "relative" "M" "yes" "Iran" "" "0" "" "" "" "FamPatIII6" "00431195" "" "" "00295635" "1" "" "03626" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "brother relative" "M" "yes" "Iran" "" "0" "" "" "" "FamPatIII8" "00431196" "" "" "00295635" "1" "" "03626" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "brother relative" "M" "yes" "Iran" "" "0" "" "" "" "FamPatIII12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00295635" "00198" "00431193" "00198" "00431194" "00198" "00431195" "00198" "00431196" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 5 "{{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}}" "0000223199" "00198" "00295635" "03626" "Familial, autosomal recessive" "43y" "analysis sperm see paper; assisted reproductive technology; birth-hearing loss, 39y-43y severe/profound hearing loss, no tinnitus, no hearing aids, no cochlear implant, no vestibular function defect/cochlear malformation, no vertigo" "" "" "" "" "" "" "" "" "" "congenital hearing loss, male infertility" "" "0000321802" "00198" "00431193" "03626" "Familial, autosomal recessive" "32y" "analysis sperm see paper; assisted reproductive technology; birth-hearing loss, 28y-32y severe/profound hearing loss, no tinnitus, hearing aids, cochlear implant, no vestibular function defect/cochlear malformation, no vertigo" "" "" "" "" "" "" "" "" "" "congenital hearing loss, male infertility" "" "0000321803" "00198" "00431194" "03626" "Familial, autosomal recessive" "45y" "analysis sperm see paper; assisted reproductive technology; birth-hearing loss, 41y-45y severe/profound hearing loss, no tinnitus, no hearing aids, no cochlear implant, no vestibular function defect/cochlear malformation, no vertigo" "" "" "" "" "" "" "" "" "" "congenital hearing loss, male infertility" "" "0000321804" "00198" "00431195" "03626" "Familial, autosomal recessive" "39y" "analysis sperm see paper; assisted reproductive technology; birth-hearing loss, 35y-39y severe/profound hearing loss, no tinnitus, hearing aids, cochlear implant, no vestibular function defect/cochlear malformation, no vertigo" "" "" "" "" "" "" "" "" "" "congenital hearing loss, male infertility" "" "0000321805" "00198" "00431196" "03626" "Familial, autosomal recessive" "37y" "analysis sperm see paper; no assisted reproductive technology; birth-hearing loss, 33y-37y severe/profound hearing loss, no tinnitus, hearing aids, no cochlear implant, no vestibular function defect/cochlear malformation, no vertigo" "" "" "" "" "" "" "" "" "" "congenital hearing loss, male infertility" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296807" "00295635" "1" "03626" "03626" "2020-03-21 14:36:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000432604" "00431193" "1" "03626" "00006" "2023-02-01 11:02:25" "" "" "SEQ" "DNA" "" "" "0000432605" "00431194" "1" "03626" "00006" "2023-02-01 11:02:25" "" "" "SEQ" "DNA" "" "" "0000432606" "00431195" "1" "03626" "00006" "2023-02-01 11:02:25" "" "" "SEQ" "DNA" "" "" "0000432607" "00431196" "1" "03626" "00006" "2023-02-01 11:02:25" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000432604" "POLR2C" "0000432605" "POLR2C" "0000432606" "POLR2C" "0000432607" "POLR2C" ## 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 = 17 "{{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}}" "0000264969" "0" "10" "16" "57493629" "57493629" "subst" "0.00412508" "02330" "COQ9_000007" "g.57493629G>C" "" "" "" "COQ9(NM_020312.4):c.864G>C (p.K288N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57459717G>C" "" "benign" "" "0000264970" "0" "50" "16" "57493973" "57493973" "subst" "7.71881E-5" "02330" "COQ9_000008" "g.57493973C>T" "" "" "" "COQ9(NM_020312.4):c.878C>T (p.T293I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57460061C>T" "" "VUS" "" "0000274343" "0" "50" "16" "57493591" "57493591" "subst" "0.0040485" "01943" "COQ9_000006" "g.57493591C>T" "" "" "" "COQ9(NM_020312.3):c.826C>T (p.R276W), COQ9(NM_020312.4):c.826C>T (p.R276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57459679C>T" "" "VUS" "" "0000558602" "0" "30" "16" "57493600" "57493600" "subst" "0.00233108" "01943" "CIAPIN1_000007" "g.57493600G>A" "" "" "" "COQ9(NM_020312.3):c.835G>A (p.D279N), COQ9(NM_020312.4):c.835G>A (p.D279N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57459688G>A" "" "likely benign" "" "0000558603" "0" "30" "16" "57493600" "57493600" "subst" "0.00233108" "02326" "CIAPIN1_000007" "g.57493600G>A" "" "" "" "COQ9(NM_020312.3):c.835G>A (p.D279N), COQ9(NM_020312.4):c.835G>A (p.D279N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57459688G>A" "" "likely benign" "" "0000558604" "0" "30" "16" "57494027" "57494027" "subst" "0.00220832" "02330" "CIAPIN1_000008" "g.57494027C>A" "" "" "" "COQ9(NM_020312.4):c.921+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57460115C>A" "" "likely benign" "" "0000558605" "0" "10" "16" "57494029" "57494029" "subst" "0.00290515" "02330" "CIAPIN1_000009" "g.57494029C>T" "" "" "" "COQ9(NM_020312.4):c.921+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57460117C>T" "" "benign" "" "0000653518" "3" "70" "16" "57503978" "57503978" "subst" "0" "03626" "POLR2C_000001" "g.57503978T>C" "" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "" "" "ACMG PM1, PM2, PP1, PP2" "Germline" "yes" "" "0" "" "" "g.57470066T>C" "RCV001093632.1" "likely pathogenic (recessive)" "ACMG" "0000893099" "0" "30" "16" "57493591" "57493591" "subst" "0.0040485" "02326" "COQ9_000006" "g.57493591C>T" "" "" "" "COQ9(NM_020312.3):c.826C>T (p.R276W), COQ9(NM_020312.4):c.826C>T (p.R276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893100" "0" "30" "16" "57494027" "57494027" "subst" "0.00220832" "02326" "CIAPIN1_000008" "g.57494027C>A" "" "" "" "COQ9(NM_020312.4):c.921+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914654" "0" "30" "16" "57492176" "57492176" "subst" "0.00119949" "02326" "COQ9_000009" "g.57492176C>G" "" "" "" "COQ9(NM_020312.4):c.625C>G (p.L209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918143" "3" "70" "16" "57503978" "57503978" "subst" "0" "03626" "POLR2C_000001" "g.57503978T>C" "" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "" "" "ACMG PM1, PM2, PP1, PP2" "Germline" "yes" "" "0" "" "" "g.57470066T>C" "RCV001093632.1" "likely pathogenic (recessive)" "ACMG" "0000918144" "3" "70" "16" "57503978" "57503978" "subst" "0" "03626" "POLR2C_000001" "g.57503978T>C" "" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "" "" "ACMG PM1, PM2, PP1, PP2" "Germline" "yes" "" "0" "" "" "g.57470066T>C" "RCV001093632.1" "likely pathogenic (recessive)" "ACMG" "0000918145" "3" "70" "16" "57503978" "57503978" "subst" "0" "03626" "POLR2C_000001" "g.57503978T>C" "" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "" "" "ACMG PM1, PM2, PP1, PP2" "Germline" "yes" "" "0" "" "" "g.57470066T>C" "RCV001093632.1" "likely pathogenic (recessive)" "ACMG" "0000918146" "3" "70" "16" "57503978" "57503978" "subst" "0" "03626" "POLR2C_000001" "g.57503978T>C" "" "{PMID:Varshney 2023:35477554}, {DOI:Varshney 2023:10.1111/eci.13946}" "" "" "ACMG PM1, PM2, PP1, PP2" "Germline" "yes" "" "0" "" "" "g.57470066T>C" "RCV001093632.1" "likely pathogenic (recessive)" "ACMG" "0000930627" "0" "30" "16" "57494029" "57494029" "subst" "0.00290515" "02326" "CIAPIN1_000009" "g.57494029C>T" "" "" "" "COQ9(NM_020312.4):c.921+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041214" "0" "50" "16" "57493493" "57493493" "subst" "2.03042E-5" "01804" "CIAPIN1_000017" "g.57493493G>A" "" "" "" "COQ9(NM_020312.4):c.728G>A (p.(Arg243His))" "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 POLR2C ## Count = 17 "{{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}}" "0000264969" "00016503" "10" "-3008" "0" "-3008" "0" "c.-3008G>C" "r.(?)" "p.(=)" "" "0000264970" "00016503" "50" "-2664" "0" "-2664" "0" "c.-2664C>T" "r.(?)" "p.(=)" "" "0000274343" "00016503" "50" "-3046" "0" "-3046" "0" "c.-3046C>T" "r.(?)" "p.(=)" "" "0000558602" "00016503" "30" "-3037" "0" "-3037" "0" "c.-3037G>A" "r.(?)" "p.(=)" "" "0000558603" "00016503" "30" "-3037" "0" "-3037" "0" "c.-3037G>A" "r.(?)" "p.(=)" "" "0000558604" "00016503" "30" "-2610" "0" "-2610" "0" "c.-2610C>A" "r.(?)" "p.(=)" "" "0000558605" "00016503" "10" "-2608" "0" "-2608" "0" "c.-2608C>T" "r.(?)" "p.(=)" "" "0000653518" "00016503" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000893099" "00016503" "30" "-3046" "0" "-3046" "0" "c.-3046C>T" "r.(?)" "p.(=)" "" "0000893100" "00016503" "30" "-2610" "0" "-2610" "0" "c.-2610C>A" "r.(?)" "p.(=)" "" "0000914654" "00016503" "30" "-4461" "0" "-4461" "0" "c.-4461C>G" "r.(?)" "p.(=)" "" "0000918143" "00016503" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000918144" "00016503" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000918145" "00016503" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000918146" "00016503" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Val182Ala)" "" "0000930627" "00016503" "30" "-2608" "0" "-2608" "0" "c.-2608C>T" "r.(?)" "p.(=)" "" "0001041214" "00016503" "50" "-3144" "0" "-3144" "0" "c.-3144G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000296807" "0000653518" "0000432604" "0000918143" "0000432605" "0000918144" "0000432606" "0000918145" "0000432607" "0000918146"