### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = YWHAG) # 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}}" "YWHAG" "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide" "7" "q11.23" "unknown" "NC_000007.13" "UD_133034134419" "" "https://www.LOVD.nl/YWHAG" "" "1" "12852" "7532" "605356" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/YWHAG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-29 12:41:52" "00006" "2025-05-27 16:25:48" ## 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}}" "00022990" "YWHAG" "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide" "001" "NM_012479.3" "" "NP_036611.2" "" "" "" "-217" "3530" "744" "75988342" "75956108" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06745" "EIEE56" "Epileptic encephalopathy, early infantile, 56" "AD" "617665" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "YWHAG" "06745" ## 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}}" "00269528" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "0" "" "" "" "" "00465603" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00269528" "00344" "00465603" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00344, 05611, 06745 ## Count = 2 "{{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}}" "0000207359" "00344" "00269528" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "0000351149" "05611" "00465603" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000717, HP:0006889, HP:0007018, HP:0007359, HP:0008110, HP:0011342" "" "" "" "" "" "" "" "DEE56" "complex neurodevelopmental disorder" ## 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}}" "0000270682" "00269528" "1" "03512" "03512" "2019-11-29 11:09:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000467251" "00465603" "1" "03544" "03544" "2025-05-23 12:36:03" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "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 = 12 "{{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}}" "0000532674" "0" "70" "7" "75959060" "75959060" "subst" "0" "01804" "YWHAG_000001" "g.75959060G>A" "" "" "" "YWHAG(NM_012479.3):c.578C>T (p.(Ala193Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76329743G>A" "" "likely pathogenic" "" "0000604468" "0" "70" "7" "75959244" "75959244" "subst" "0" "03512" "YWHAG_000002" "g.75959244G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.76329927G>A" "" "likely pathogenic (dominant)" "" "0000678176" "0" "30" "7" "75958921" "75958921" "subst" "1.63187E-5" "02326" "YWHAG_000003" "g.75958921G>A" "" "" "" "YWHAG(NM_012479.4):c.717C>T (p.D239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678177" "0" "30" "7" "75959560" "75959560" "subst" "0.000718439" "02326" "YWHAG_000004" "g.75959560G>A" "" "" "" "YWHAG(NM_012479.4):c.88-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690074" "0" "30" "7" "75959005" "75959005" "subst" "4.06065E-6" "01943" "YWHAG_000005" "g.75959005G>A" "" "" "" "YWHAG(NM_012479.4):c.633C>T (p.L211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803248" "0" "50" "7" "75958970" "75958970" "subst" "0" "02327" "YWHAG_000006" "g.75958970A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803249" "0" "70" "7" "75959469" "75959469" "subst" "0" "01943" "YWHAG_000007" "g.75959469G>A" "" "" "" "YWHAG(NM_012479.4):c.169C>T (p.R57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887977" "0" "50" "7" "75959138" "75959138" "subst" "0" "02327" "YWHAG_000008" "g.75959138G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887978" "0" "50" "7" "75959485" "75959485" "subst" "0" "02325" "YWHAG_000009" "g.75959485G>T" "" "" "" "YWHAG(NM_012479.4):c.153C>A (p.N51K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924756" "0" "70" "7" "75959346" "75959346" "subst" "0" "02327" "YWHAG_000010" "g.75959346G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977856" "0" "50" "7" "75959311" "75959311" "subst" "0" "01804" "YWHAG_000011" "g.75959311G>C" "" "" "" "YWHAG(NM_012479.4):c.327C>G (p.(Ile109Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045044" "0" "90" "7" "75959243" "75959243" "subst" "0" "03544" "YWHAG_000012" "g.75959243C>T" "" "" "" "" "" "Germline" "-" "rs1583981615" "0" "" "" "g.76329926C>T" "{CV:807723}" "pathogenic" "ACMG" ## 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 YWHAG ## Count = 12 "{{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}}" "0000532674" "00022990" "70" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ala193Val)" "" "0000604468" "00022990" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000678176" "00022990" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Asp239=)" "" "0000678177" "00022990" "30" "88" "-10" "88" "-10" "c.88-10C>T" "r.(=)" "p.(=)" "" "0000690074" "00022990" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Leu211=)" "" "0000803248" "00022990" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Met223Thr)" "" "0000803249" "00022990" "70" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "0000887977" "00022990" "50" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Pro167His)" "" "0000887978" "00022990" "50" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.(Asn51Lys)" "" "0000924756" "00022990" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Gln98*)" "" "0000977856" "00022990" "50" "327" "0" "327" "0" "c.327C>G" "r.(?)" "p.(Ile109Met)" "" "0001045044" "00022990" "90" "395" "0" "395" "0" "c.395G>A" "r.(395G>A)" "p.(Arg132His)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000270682" "0000604468" "0000467251" "0001045044"