### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GCDH)
# 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}}"
"GCDH"	"glutaryl-CoA dehydrogenase"	"19"	"p13.13"	"unknown"	"NG_009292.1"	"UD_144420535325"	""	""	""	"1"	"4189"	"2639"	"608801"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-26 09:46:29"	""	""	"00006"	"2021-09-12 14:59:38"


## 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}}"
"00000045"	"GCDH"	"transcript variant 1"	"002"	"NM_000159.3"	""	"NP_000150.1"	""	""	""	"-108"	"1775"	"1317"	"12891129"	"12899999"	"00001"	"2020-11-26 09:47:27"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00029"	"GA1"	"Glutaric aciduria type 1"	""	""	""	""	""	"00001"	"2020-11-26 09:46:15"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GCDH"	"00029"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000191"	""	""	""	"1"	""	"00002"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000192"	""	""	""	"1"	""	"00002"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}"	""	""	"Malaysia"	"Malay"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000191"	"00029"
"00000192"	"00029"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00029
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000089"	"00029"	"00000191"	"00002"	""	"Familial, autosomal recessive"
"0000000090"	"00029"	"00000192"	"00002"	""	"Familial, autosomal recessive"


## 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}}"
"0000000206"	"00000191"	"1"	"00002"	"00002"	"2020-11-26 09:53:34"	""	""	"PCR;SEQ"	"DNA"
"0000000207"	"00000192"	"1"	"00002"	"00002"	"2020-11-26 10:26:32"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000206"	"GCDH"
"0000000207"	"GCDH"


## 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 = 11
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000000939"	"0"	"90"	"19"	"12896949"	"12896949"	"subst"	"0"	"00002"	"GCDH_000001"	"g.12896949G>A"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs761765983}, {ClinVar:429706}"	""	""	"rs761765983"
"0000000940"	"0"	"90"	"19"	"12899466"	"12899466"	"subst"	"0"	"00002"	"GCDH_000002"	"g.12899466A>C"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs199999619}, {ClinVar:193976}"	""	""	"rs199999619"
"0000000941"	"0"	"00"	"19"	"12897406"	"12897406"	"subst"	"0"	"00002"	"GCDH_000003"	"g.12897406G>A"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs768925619}, {ClinVar:188946}"	""	""	"rs768925619"
"0000000942"	"0"	"90"	"19"	"12897788"	"12897788"	"subst"	"0"	"00002"	"GCDH_000004"	"g.12897788G>T"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}"	""	""	"rs876660106"
"0000000943"	"0"	"00"	"19"	"12897409"	"12897409"	"subst"	"0"	"00002"	"GCDH_000005"	"g.12897409C>T"	"2/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs781477694}, {ClinVar:430222}"	""	""	"rs781477694"
"0000000944"	"0"	"50"	"19"	"12899485"	"12899485"	"subst"	"0"	"00002"	"GCDH_000006"	"g.12899485G>A"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs151201155}, {ClinVar:285973}"	""	""	"rs151201155"
"0000000945"	"0"	"90"	"19"	"12893530"	"12893530"	"subst"	"0"	"00002"	"GCDH_000007"	"g.12893530C>T"	"1/8"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs752334462}, {ClinVar:371176}"	""	""	"rs752334462"
"0000000946"	"0"	"50"	"19"	"12891930"	"12891930"	"subst"	"0"	"00002"	"GCDH_000008"	"g.12891930A>C"	"2/6"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs748185335}, {ClinVar:553050}"	""	""	"rs748185335"
"0000000947"	"0"	"90"	"19"	"12893540"	"12893540"	"subst"	"0"	"00002"	"GCDH_000009"	"g.12893540A>T"	"1/6"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}"	""	""	"rs1300977671"
"0000000948"	"0"	"90"	"19"	"12899466"	"12899466"	"subst"	"0"	"00002"	"GCDH_000002"	"g.12899466A>C"	"1/6"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}, {dbSNP:rs199999619}, {ClinVar:193976}"	""	""	"rs199999619"
"0000000949"	"0"	"90"	"19"	"12897777"	"12897777"	"subst"	"0"	"00002"	"GCDH_000010"	"g.12897777G>A"	"2/6"	"{PMID:Siti Aishah Abdul Wahab et al. (2016):27672653}"	""	""	""


## 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 GCDH
## Count = 11
"{{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/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000000939"	"00000045"	"90"	"892"	"0"	"892"	"0"	"c.892G>A"	"9"	"p.(Ala298Thr)"	"r.(?)"	""	""	"{ClinVar:429706}"
"0000000940"	"00000045"	"90"	"1244"	"-2"	"1244"	"-2"	"c.1244-2A>C"	"11i"	"p.?"	"r.spl?"	""	""	"{ClinVar:193976}"
"0000000941"	"00000045"	"00"	"1060"	"0"	"1060"	"0"	"c.1060G>A"	"10"	"p.(Gly354Ser)"	"r.(?)"	""	""	"{ClinVar:188946}"
"0000000942"	"00000045"	"90"	"1168"	"0"	"1168"	"0"	"c.1168G>T"	"-"	"p.(Gly390Trp)"	"r.(?)"	""	""	""
"0000000943"	"00000045"	"00"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"-"	"p.(Arg355Cys)"	"r.(?)"	""	""	"{ClinVar:430222}"
"0000000944"	"00000045"	"50"	"1261"	"0"	"1261"	"0"	"c.1261G>A"	""	"p.(Ala421Thr)"	"r.(?)"	""	""	"{ClinVar:285973}"
"0000000945"	"00000045"	"90"	"382"	"0"	"382"	"0"	"c.382C>T"	""	"p.(Arg128*)"	"r.(?)"	""	""	"{ClinVar:371176}"
"0000000946"	"00000045"	"50"	"227"	"0"	"227"	"0"	"c.227A>C"	"4"	"p.(Gln76Pro)"	"r.(?)"	""	""	"{ClinVar:553050}"
"0000000947"	"00000045"	"90"	"392"	"0"	"392"	"0"	"c.392A>T"	"6"	"p.(Glu131Val)"	"r.(?)"	""	""	""
"0000000948"	"00000045"	"90"	"1244"	"-2"	"1244"	"-2"	"c.1244-2A>C"	"11i"	"p.?"	"r.spl?"	""	""	"{ClinVar:193976}"
"0000000949"	"00000045"	"90"	"1157"	"0"	"1157"	"0"	"c.1157G>A"	"11"	"p.(Arg386Gln)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{variantid}}"
"0000000206"	"0000000939"
"0000000206"	"0000000940"
"0000000206"	"0000000941"
"0000000206"	"0000000942"
"0000000206"	"0000000943"
"0000000206"	"0000000944"
"0000000206"	"0000000945"
"0000000207"	"0000000946"
"0000000207"	"0000000947"
"0000000207"	"0000000948"
"0000000207"	"0000000949"