### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMGDH) # 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}}" "DMGDH" "dimethylglycine dehydrogenase" "5" "q14.1" "unknown" "NG_012164.1" "UD_132118901224" "" "https://www.LOVD.nl/DMGDH" "" "1" "24475" "29958" "605849" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DMGDH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-03 09:56:34" "00000" "2020-09-15 15:50:26" ## 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}}" "00025387" "DMGDH" "transcript variant 1" "001" "NM_013391.3" "" "NP_037523.2" "" "" "" "-54" "3119" "2601" "78365497" "78293387" "00006" "2019-03-03 10:02:26" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02566" "DMGDHD" "deficiency, dimethylglycine dehydrogenase (DMGDHD, body odor, fish-like)" "" "605850" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2019-03-03 09:59:34" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DMGDH" "02566" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00293912" "" "" "" "6" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293913" "" "" "" "48" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305042" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00293912" "00198" "00293913" "00198" "00305042" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02566 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295080" "00293912" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295081" "00293913" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306171" "00305042" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## 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 = 8 "{{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}}" "0000248560" "0" "10" "5" "78351636" "78351636" "subst" "0.643708" "02325" "DMGDH_000003" "g.78351636A>C" "" "" "" "DMGDH(NM_013391.3):c.372T>G (p.G124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79055813A>C" "" "benign" "" "0000248902" "0" "10" "5" "78340286" "78340286" "subst" "0.558942" "02325" "DMGDH_000002" "g.78340286A>G" "" "" "" "DMGDH(NM_013391.3):c.835T>C (p.S279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79044463A>G" "" "benign" "" "0000267421" "0" "10" "5" "78340257" "78340257" "subst" "0.558978" "02325" "DMGDH_000001" "g.78340257C>G" "" "" "" "DMGDH(NM_013391.3):c.864G>C (p.L288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79044434C>G" "" "benign" "" "0000526084" "0" "30" "5" "78340264" "78340264" "subst" "0.0000162471" "01804" "DMGDH_000005" "g.78340264C>T" "" "" "" "DMGDH(NM_013391.2):c.857G>A (p.(Arg286Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79044441C>T" "" "likely benign" "" "0000651769" "1" "30" "5" "78301172" "78301172" "subst" "0.00183963" "03575" "DMGDH_000006" "g.78301172C>T" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs41272262}" "Germline" "" "rs41272262" "0" "" "" "g.79005349C>T" "" "likely benign" "" "0000651770" "1" "10" "5" "78338202" "78338202" "subst" "0.0110366" "03575" "DMGDH_000007" "g.78338202T>C" "48/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "48 heterozygous; {DB:CLININrs77116243}" "Germline" "" "rs77116243" "0" "" "" "g.79042379T>C" "" "benign" "" "0000669859" "3" "10" "5" "78338202" "78338202" "subst" "0.0110366" "03575" "DMGDH_000007" "g.78338202T>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs77116243}" "Germline" "" "rs77116243" "0" "" "" "g.79042379T>C" "" "benign" "" "0000677552" "0" "50" "5" "78322372" "78322372" "subst" "0" "01943" "DMGDH_000008" "g.78322372C>A" "" "" "" "DMGDH(NM_013391.3):c.2065G>T (p.E689*)" "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 DMGDH ## Count = 8 "{{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}}" "0000248560" "00025387" "10" "372" "0" "372" "0" "c.372T>G" "r.(?)" "p.(Gly124=)" "" "0000248902" "00025387" "10" "835" "0" "835" "0" "c.835T>C" "r.(?)" "p.(Ser279Pro)" "" "0000267421" "00025387" "10" "864" "0" "864" "0" "c.864G>C" "r.(?)" "p.(Leu288=)" "" "0000526084" "00025387" "30" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Arg286Gln)" "" "0000651769" "00025387" "30" "2309" "0" "2309" "0" "c.2309G>A" "r.(?)" "p.(Arg770Gln)" "" "0000651770" "00025387" "10" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "" "0000669859" "00025387" "10" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "" "0000677552" "00025387" "50" "2065" "0" "2065" "0" "c.2065G>T" "r.(?)" "p.(Glu689Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000295080" "0000651769" "0000295081" "0000651770" "0000306171" "0000669859"