### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SMCR7)
# 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}}"
"SMCR7" "Smith-Magenis syndrome chromosome region, candidate 7" "17" "p11.2" "unknown" "NC_000017.10" "UD_136022466540" "" "https://www.LOVD.nl/MIEF2" "" "1" "17920" "125170" "615498" "1" "1" "1" "1" "NOTE: gene name changed from SMCR7 to MIEf2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from SMCR7 to MIEf2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-18 12:18:08" "00006" "2023-09-18 22:14:18"
## 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}}"
"00019440" "SMCR7" "transcript variant 1" "001" "NM_139162.3" "" "NP_631901.2" "" "" "" "-211" "2382" "1365" "18163848" "18169095" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31"
"05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" ""
"07027" "COXPD49" "combined oxidative phosphorylation deficiency, type 49" "AR" "619024" "" "" "" "00006" "2023-09-18 12:14:28" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"SMCR7" "05316"
"SMCR7" "07027"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00296603" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "yes" "Germany" "" "0" "" "" "" "Pat36"
"00436495" "" "" "" "1" "" "00006" "{PMID:Bartsakoulia 2018:29361167}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Germany" "" "0" "" "" "Jewish" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00296603" "00198"
"00436495" "00244"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 05316, 07027
## Count = 2
"{{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}}"
"0000224009" "00198" "00296603" "00006" "Familial, autosomal recessive" "14y" "muscle not affected; central nervous system not affected; heart not affected; liver not affected; raised CK (760)" "10y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" ""
"0000326673" "00244" "00436495" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., 6y-progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase (1283 U/l), MRI brain normal, dystrophinopathy excluded" "" "" "" "" "" "" "" "" "COXPD49" "myopathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000297713" "00296603" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000437979" "00436495" "1" "00006" "00006" "2023-09-18 22:08:45" "" "" "SEQ-NG" "DNA" "" "WES"
## 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 = 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}}"
"0000291820" "0" "50" "17" "18167844" "18167844" "subst" "1.67232E-5" "01943" "SMCR7_000002" "g.18167844C>G" "" "" "" "MIEF2(NM_139162.4):c.1131C>G (p.H377Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18264530C>G" "" "VUS" ""
"0000291821" "0" "30" "17" "18167496" "18167496" "subst" "0" "01943" "SMCR7_000001" "g.18167496G>A" "" "" "" "MIEF2(NM_139162.4):c.783G>A (p.A261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18264182G>A" "" "likely benign" ""
"0000660356" "3" "50" "17" "18166493" "18166493" "subst" "0" "00006" "SMCR7_000003" "g.18166493C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.18263179C>T" "" "VUS" ""
"0000914750" "0" "10" "17" "18161744" "18161744" "subst" "0.246811" "02325" "FLII_000009" "g.18161744C>T" "" "" "" "FLII(NM_001256264.2):c.30+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000914751" "0" "10" "17" "18161808" "18161808" "subst" "0.00315913" "02325" "FLII_000010" "g.18161808C>T" "" "" "" "FLII(NM_001256264.2):c.-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000933476" "3" "90" "17" "18166493" "18166493" "subst" "0" "00006" "SMCR7_000003" "g.18166493C>T" "" "{PMID:Bartsakoulia 2018:29361167}" "" "NM_148886:c.274C>T (Q92*)" "" "Germline" "" "" "0" "" "" "g.18263179C>T" "" "pathogenic (recessive)" ""
## 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 SMCR7
## 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}}"
"0000291820" "00019440" "50" "1131" "0" "1131" "0" "c.1131C>G" "r.(?)" "p.(His377Gln)" ""
"0000291821" "00019440" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ala261=)" ""
"0000660356" "00019440" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81*)" ""
"0000914750" "00019440" "10" "-2315" "0" "-2315" "0" "c.-2315C>T" "r.(?)" "p.(=)" ""
"0000914751" "00019440" "10" "-2251" "0" "-2251" "0" "c.-2251C>T" "r.(?)" "p.(=)" ""
"0000933476" "00019440" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81Ter)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000297713" "0000660356"
"0000437979" "0000933476"