### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SC5D)
# 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}}"
"SC5D" "sterol-C5-desaturase" "11" "q23.3" "unknown" "NG_009446.1" "UD_139575532472" "" "http://www.LOVD.nl/SC5D" "" "1" "10547" "6309" "602286" "1" "1" "1" "1" "alias SC5DL
\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SC5D_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2014-09-25 00:00:00" "00006" "2016-05-15 22:19:58" "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}}"
"00024131" "SC5D" "transcript variant 1" "001" "NM_006918.4" "" "NP_008849.2" "" "" "" "-148" "6798" "900" "121292679" "121313410" "00006" "2016-05-15 22:18:48" "" ""
## 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}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"02648" "LATHOS" "lathosterolosis" "AR" "607330" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"SC5D" "00139"
"SC5D" "02648"
## 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}}"
"00065056" "" "" "" "1" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "no family history" "M" "no" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00065056" "05165"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 02648, 05165
## 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}}"
"0000051193" "05165" "00065056" "00006" "Familial, autosomal recessive" "" "posterior opacities; neurologic developmental delay, microcephaly" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000065198" "00065056" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 23:03:59" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000065198" "SC5D"
## 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 = 6
"{{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}}"
"0000096854" "1" "70" "11" "121177800" "121177800" "subst" "0" "00006" "SC5D_000001" "g.121177800C>G" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.121307091C>G" "" "likely pathogenic" ""
"0000096856" "2" "70" "11" "121177951" "121177951" "subst" "4.06147E-6" "00006" "SC5D_000002" "g.121177951C>A" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.121307242C>A" "" "likely pathogenic" ""
"0000542761" "0" "30" "11" "121177973" "121177973" "subst" "0.000227444" "01804" "SC5D_000004" "g.121177973A>G" "" "" "" "SC5D(NM_001024956.2):c.652A>G (p.(Ile218Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121307264A>G" "" "likely benign" ""
"0000979409" "0" "50" "11" "121174248" "121174248" "subst" "0.000101611" "01804" "SC5D_000005" "g.121174248A>G" "" "" "" "SC5D(NM_006918.5):c.164A>G (p.(Tyr55Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979410" "0" "50" "11" "121175127" "121175128" "del" "0" "01804" "SC5D_000006" "g.121175127_121175128del" "" "" "" "SC5D(NM_006918.5):c.268_269del (p.(Leu90Tyrfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038291" "0" "50" "11" "121174097" "121174097" "subst" "0" "01804" "SC5D_000007" "g.121174097C>G" "" "" "" "SC5D(NM_006918.5):c.13C>G (p.(Leu5Val))" "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 SC5D
## Count = 6
"{{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}}"
"0000096854" "00024131" "70" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Pro160Arg)" "5"
"0000096856" "00024131" "70" "630" "0" "630" "0" "c.630C>A" "r.(?)" "p.(Asp210Glu)" "5"
"0000542761" "00024131" "30" "652" "0" "652" "0" "c.652A>G" "r.(?)" "p.(Ile218Val)" ""
"0000979409" "00024131" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Tyr55Cys)" ""
"0000979410" "00024131" "50" "268" "0" "269" "0" "c.268_269del" "r.(?)" "p.(Leu90Tyrfs*17)" ""
"0001038291" "00024131" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Leu5Val)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000065198" "0000096854"
"0000065198" "0000096856"