### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SGCD) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "SGCD" "sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)" "5" "q33-q34" "unknown" "NC_000005.9" "UD_138175498138" "" "" "" "1" "1" "10807" "6444" "601411" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "{{iNote}}" "{{chrom}}" "00001133" "SGCD" "transcript variant X1" "001" "XM_005265965.1" "" "XP_005266022.1" "" "" "" "-226" "9271" "873" "155462147" "156194799" "00001" "2013-11-12 21:56:03" "" "" "" "5" "00001134" "SGCD" "transcript variant 1" "002" "NM_000337.5" "" "NP_000328.2" "" "" "" "-519" "9271" "873" "155753767" "156194799" "00001" "2013-11-12 21:56:03" "" "" "" "5" "00001135" "SGCD" "transcript variant 3" "003" "NM_001128209.1" "" "NP_001121681.1" "" "" "" "-476" "9268" "870" "155753767" "156194799" "00001" "2013-11-12 21:56:03" "" "" "" "5" "00001136" "SGCD" "transcript variant 2" "004" "NM_172244.2" "" "NP_758447.1" "" "" "" "-519" "1054" "771" "155753767" "156185070" "00001" "2013-11-12 21:56:03" "" "" "" "5" "00001137" "SGCD" "transcript variant X3" "005" "XM_005265967.1" "" "XP_005266024.1" "" "" "" "-111" "573" "528" "155754175" "156184662" "00001" "2013-11-12 21:56:03" "" "" "" "5" "00001138" "SGCD" "transcript variant X2" "006" "XM_005265966.1" "" "XP_005266023.1" "" "" "" "-127" "9271" "873" "155756067" "156194799" "00001" "2013-11-12 21:56:03" "" "" "" "5" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 1 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000003258" "0" "99" "5" "156022010" "156022010" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-11-14 19:17:28" "SGCD_000001" "g.156022010T>G" "" "{PMID:23695275:23695275};{PMID:18285821:18285821};{PMID:14564412:14564412};{PMID:19259135:19259135};{PMID:10974018:10974018};{PMID:17164264:17164264}" "" "rs121909298" "subst" "0" "; clinvar;" "5.660" "" "" "" "" "MSCV_0003258" "" ## 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. ## Count = 6 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000003258" "00001133" "99" "451" "0" "451" "0" "c.451T>G" "6/9" "p.(Ser151Ala)" "r.(?)" "possibly_damaging(0.779)" "" "missense_variant" "" "" "tolerated(0.62)" "0000003258" "00001134" "99" "451" "0" "451" "0" "c.451T>G" "6/9" "p.(Ser151Ala)" "r.(?)" "possibly_damaging(0.779)" "" "missense_variant" "" "" "tolerated(0.62)" "0000003258" "00001135" "99" "448" "0" "448" "0" "c.448T>G" "5/8" "p.(Ser150Ala)" "r.(?)" "possibly_damaging(0.859)" "" "missense_variant" "" "" "tolerated(0.63)" "0000003258" "00001136" "99" "451" "0" "451" "0" "c.451T>G" "6/9" "p.(Ser151Ala)" "r.(?)" "possibly_damaging(0.779)" "" "missense_variant" "" "" "tolerated(0.62)" "0000003258" "00001137" "99" "451" "0" "451" "0" "c.451T>G" "6/9" "p.(Ser151Ala)" "r.(?)" "possibly_damaging(0.779)" "" "missense_variant" "" "" "tolerated(0.62)" "0000003258" "00001138" "99" "451" "0" "451" "0" "c.451T>G" "6/9" "p.(Ser151Ala)" "r.(?)" "possibly_damaging(0.779)" "" "missense_variant" "" "" "tolerated(0.62)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0