### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELOVL5) # 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}}" "ELOVL5" "ELOVL fatty acid elongase 5" "6" "p21.1-p12.1" "unknown" "NC_000006.11" "UD_132464788949" "" "http://www.LOVD.nl/ELOVL5" "" "1" "21308" "60481" "611805" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ELOVL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-24 11:49:23" "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}}" "00007051" "ELOVL5" "transcript variant 1" "002" "NM_021814.4" "" "NP_068586.1" "" "" "" "-371" "2629" "900" "53213977" "53132196" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "04462" "SCA38" "ataxia, spinocerebellar, type 38 (SCA-38)" "AD" "615957" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ELOVL5" "04462" ## 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}}" "00027179" "" "" "" "11" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "4-generation family, 11 affecteds (5F, 6M)" "-" "no" "Italy" "" "0" "" "" "" "" "00027180" "" "" "" "3" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "4 generation family, 3 affecteds (2F, M)" "-" "no" "France" "" "0" "" "" "" "" "00027181" "" "" "" "7" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "4-generation family, 7 affecteds (4F, 3M)" "-" "no" "Italy" "" "0" "" "" "" "" "00027182" "" "" "" "17" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "4-generation family, 17 affecteds (8F, 9M)" "-" "no" "Italy" "" "0" "" "" "" "" "00027183" "" "" "" "1" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "456 index individuals (Europe)" "?" "?" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00027179" "04167" "00027180" "04167" "00027181" "04167" "00027182" "04167" "00027183" "04167" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04167, 04462 ## Count = 5 "{{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}}" "0000023250" "04167" "00027179" "00006" "Familial, autosomal dominant" "" "see paper; pure form of cerebellar ataxia" "" "" "" "" "" "" "" "" "" "0000023251" "04167" "00027180" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "0000023252" "04167" "00027181" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "0000023253" "04167" "00027182" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "0000023254" "04167" "00027183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000027183" "00027179" "1" "00006" "00006" "2014-12-24 11:55:24" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027184" "00027180" "1" "00006" "00006" "2014-12-24 12:20:22" "" "" "SEQ" "DNA" "" "" "0000027185" "00027181" "1" "00006" "00006" "2014-12-24 12:24:51" "" "" "SEQ" "DNA" "" "" "0000027186" "00027182" "1" "00006" "00006" "2014-12-24 12:29:52" "" "" "SEQ" "DNA" "" "" "0000027187" "00027183" "1" "00006" "00006" "2014-12-24 12:34:16" "00006" "2014-12-24 12:38:51" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000027183" "ELOVL5" "0000027184" "ELOVL5" "0000027185" "ELOVL5" "0000027186" "ELOVL5" "0000027187" "ELOVL5" ## 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 = 25 "{{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}}" "0000050321" "1" "90" "6" "53135458" "53135458" "subst" "0" "00006" "ELOVL5_000001" "g.53135458C>A" "" "{PMID:Di Gregorio 2014:25065913}" "" "" "mapped by linkage analysis LOD=3.08" "Germline" "yes" "" "0" "" "" "g.53270660C>A" "" "pathogenic" "" "0000050324" "1" "90" "6" "53156606" "53156606" "subst" "0" "00006" "ELOVL5_000002" "g.53156606G>C" "" "{PMID:Di Gregorio 2014:25065913}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53291808G>C" "" "pathogenic" "" "0000050325" "1" "90" "6" "53135458" "53135458" "subst" "0" "00006" "ELOVL5_000001" "g.53135458C>A" "" "{PMID:Di Gregorio 2014:25065913}" "" "" "25.8 Mb shared haplotype" "Germline" "yes" "" "0" "" "" "g.53270660C>A" "" "pathogenic" "" "0000050326" "1" "90" "6" "53135458" "53135458" "subst" "0" "00006" "ELOVL5_000001" "g.53135458C>A" "" "{PMID:Di Gregorio 2014:25065913}" "" "" "25.8 Mb shared haplotype" "Germline" "yes" "" "0" "" "" "g.53270660C>A" "" "pathogenic" "" "0000050327" "0" "10" "6" "53140973" "53140973" "subst" "4.09769E-6" "00006" "ELOVL5_000003" "g.53140973G>A" "1/456 cases" "{PMID:Di Gregorio 2014:25065913}" "" "" "" "Unknown" "?" "" "0" "" "" "g.53276175G>A" "" "benign" "" "0000050328" "0" "30" "6" "53135449" "53135449" "subst" "0.000629923" "00006" "ELOVL5_000004" "g.53135449T>C" "2/456 cases" "{PMID:Di Gregorio 2014:25065913}" "" "" "" "Unknown" "?" "rs41273880" "0" "" "" "g.53270651T>C" "" "likely benign" "" "0000267811" "0" "30" "6" "53152683" "53152683" "subst" "0.0062917" "02325" "ELOVL5_000005" "g.53152683G>A" "" "" "" "ELOVL5(NM_001242828.2):c.304C>T (p.Q102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53287885G>A" "" "likely benign" "" "0000276106" "0" "30" "6" "53152705" "53152705" "subst" "0.000890746" "01943" "ELOVL5_000006" "g.53152705G>C" "" "" "" "ELOVL5(NM_001242828.1):c.282C>G (p.A94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53287907G>C" "" "likely benign" "" "0000529129" "0" "50" "6" "53152709" "53152709" "subst" "0.000145758" "01943" "ELOVL5_000007" "g.53152709C>A" "" "" "" "ELOVL5(NM_001242828.1):c.278G>T (p.C93F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53287911C>A" "" "VUS" "" "0000529130" "0" "10" "6" "53156779" "53156779" "dup" "0" "01943" "ELOVL5_000008" "g.53156779dup" "" "" "" "ELOVL5(NM_001301856.1):c.59-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53291981dup" "" "benign" "" "0000610391" "0" "30" "6" "53140033" "53140033" "subst" "6.90462E-5" "01943" "ELOVL5_000010" "g.53140033G>A" "" "" "" "ELOVL5(NM_001301856.1):c.351C>T (p.Y117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53275235G>A" "" "likely benign" "" "0000621720" "0" "50" "6" "53133954" "53133954" "subst" "0.000276618" "01943" "ELOVL5_000009" "g.53133954C>T" "" "" "" "ELOVL5(NM_001301856.1):c.871G>A (p.V291M), ELOVL5(NM_021814.5):c.871G>A (p.(Val291Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53269156C>T" "" "VUS" "" "0000621721" "0" "30" "6" "53159155" "53159155" "subst" "0.000271018" "01943" "ELOVL5_000012" "g.53159155C>T" "" "" "" "ELOVL5(NM_001242831.1):c.193G>A (p.V65I), ELOVL5(NM_001242831.2):c.193G>A (p.(Val65Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53294357C>T" "" "likely benign" "" "0000721001" "0" "30" "6" "53135449" "53135449" "subst" "0.000629923" "02326" "ELOVL5_000004" "g.53135449T>C" "" "" "" "ELOVL5(NM_001301856.2):c.698A>G (p.Y233C), ELOVL5(NM_021814.5):c.698A>G (p.(Tyr233Cys), p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721002" "0" "50" "6" "53140059" "53140059" "subst" "1.62584E-5" "02325" "ELOVL5_000013" "g.53140059T>G" "" "" "" "ELOVL5(NM_001301856.1):c.325A>C (p.I109L), ELOVL5(NM_001301856.2):c.325A>C (p.I109L), ELOVL5(NM_021814.5):c.325A>C (p.I109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802640" "0" "50" "6" "53135426" "53135426" "subst" "0" "02325" "ELOVL5_000014" "g.53135426A>C" "" "" "" "ELOVL5(NM_021814.5):c.721T>G (p.S241A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802641" "0" "30" "6" "53140059" "53140059" "subst" "1.62584E-5" "01943" "ELOVL5_000013" "g.53140059T>G" "" "" "" "ELOVL5(NM_001301856.1):c.325A>C (p.I109L), ELOVL5(NM_001301856.2):c.325A>C (p.I109L), ELOVL5(NM_021814.5):c.325A>C (p.I109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851255" "0" "50" "6" "53140059" "53140059" "subst" "1.62584E-5" "02329" "ELOVL5_000013" "g.53140059T>G" "" "" "" "ELOVL5(NM_001301856.1):c.325A>C (p.I109L), ELOVL5(NM_001301856.2):c.325A>C (p.I109L), ELOVL5(NM_021814.5):c.325A>C (p.I109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912552" "0" "30" "6" "53135449" "53135449" "subst" "0.000629923" "02325" "ELOVL5_000004" "g.53135449T>C" "" "" "" "ELOVL5(NM_001301856.2):c.698A>G (p.Y233C), ELOVL5(NM_021814.5):c.698A>G (p.(Tyr233Cys), p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964177" "0" "10" "6" "53135537" "53135537" "subst" "0.00466483" "02326" "ELOVL5_000015" "g.53135537G>A" "" "" "" "ELOVL5(NM_021814.5):c.622-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035846" "0" "30" "6" "53133954" "53133954" "subst" "0.000276618" "01804" "ELOVL5_000009" "g.53133954C>T" "" "" "" "ELOVL5(NM_001301856.1):c.871G>A (p.V291M), ELOVL5(NM_021814.5):c.871G>A (p.(Val291Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035847" "0" "30" "6" "53135449" "53135449" "subst" "0.000629923" "01804" "ELOVL5_000004" "g.53135449T>C" "" "" "" "ELOVL5(NM_001301856.2):c.698A>G (p.Y233C), ELOVL5(NM_021814.5):c.698A>G (p.(Tyr233Cys), p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035848" "0" "30" "6" "53139880" "53139880" "subst" "4.07581E-5" "01804" "ELOVL5_000016" "g.53139880A>G" "" "" "" "ELOVL5(NM_021814.5):c.496+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035849" "0" "30" "6" "53159155" "53159155" "subst" "0.000271018" "01804" "ELOVL5_000012" "g.53159155C>T" "" "" "" "ELOVL5(NM_001242831.1):c.193G>A (p.V65I), ELOVL5(NM_001242831.2):c.193G>A (p.(Val65Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052399" "0" "10" "6" "53152683" "53152683" "subst" "0.0062917" "02327" "ELOVL5_000005" "g.53152683G>A" "" "" "" "ELOVL5(NM_001242828.2):c.304C>T (p.Q102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ELOVL5 ## Count = 25 "{{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}}" "0000050321" "00007051" "90" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Gly230Val)" "7" "0000050324" "00007051" "90" "214" "0" "214" "0" "c.214C>G" "r.(?)" "p.(Leu72Val)" "3" "0000050325" "00007051" "90" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Gly230Val)" "7" "0000050326" "00007051" "90" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Gly230Val)" "7" "0000050327" "00007051" "10" "324" "4" "324" "4" "c.324+4C>T" "r.=" "p.=" "4i" "0000050328" "00007051" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "7" "0000267811" "00007051" "30" "246" "3891" "246" "3891" "c.246+3891C>T" "r.(=)" "p.(=)" "" "0000276106" "00007051" "30" "246" "3869" "246" "3869" "c.246+3869C>G" "r.(=)" "p.(=)" "" "0000529129" "00007051" "50" "246" "3865" "246" "3865" "c.246+3865G>T" "r.(=)" "p.(=)" "" "0000529130" "00007051" "10" "59" "-11" "59" "-11" "c.59-11dup" "r.(=)" "p.(=)" "" "0000610391" "00007051" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Tyr117=)" "" "0000621720" "00007051" "50" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Val291Met)" "" "0000621721" "00007051" "30" "58" "1285" "58" "1285" "c.58+1285G>A" "r.(=)" "p.(=)" "" "0000721001" "00007051" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "0000721002" "00007051" "50" "325" "0" "325" "0" "c.325A>C" "r.(?)" "p.(Ile109Leu)" "" "0000802640" "00007051" "50" "721" "0" "721" "0" "c.721T>G" "r.(?)" "p.(Ser241Ala)" "" "0000802641" "00007051" "30" "325" "0" "325" "0" "c.325A>C" "r.(?)" "p.(Ile109Leu)" "" "0000851255" "00007051" "50" "325" "0" "325" "0" "c.325A>C" "r.(?)" "p.(Ile109Leu)" "" "0000912552" "00007051" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "0000964177" "00007051" "10" "622" "-12" "622" "-12" "c.622-12C>T" "r.(=)" "p.(=)" "" "0001035846" "00007051" "30" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Val291Met)" "" "0001035847" "00007051" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "0001035848" "00007051" "30" "496" "8" "496" "8" "c.496+8T>C" "r.(=)" "p.(=)" "" "0001035849" "00007051" "30" "58" "1285" "58" "1285" "c.58+1285G>A" "r.(=)" "p.(=)" "" "0001052399" "00007051" "10" "246" "3891" "246" "3891" "c.246+3891C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000027183" "0000050321" "0000027184" "0000050324" "0000027185" "0000050325" "0000027186" "0000050326" "0000027187" "0000050327" "0000027187" "0000050328"