### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZFAT) # 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}}" "ZFAT" "zinc finger and AT hook domain containing" "8" "q24.23" "unknown" "NG_016356.1" "UD_132084502993" "" "https://www.LOVD.nl/ZFAT" "" "1" "19899" "57623" "610931" "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/ZFAT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-04 14:46:44" "00000" "2025-05-05 21:14:00" ## 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}}" "00025269" "ZFAT" "transcript variant 1" "002" "NM_020863.3" "" "NP_065914.2" "" "" "" "-186" "4426" "3732" "135725292" "135490031" "00006" "2018-05-04 14:51:31" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "02740" "AITD" "thyroid disease, autoimmune, susceptibility to (AITD)" "" "608175" "" "susceptibility" "" "00006" "2014-09-25 23:29:40" "00006" "2018-05-04 14:48:24" "05424" "AITD3" "thyroid disease, autoimmune, susceptibility to, type 3 (AITD-3)" "" "" "" "susceptibility" "" "00006" "2018-05-04 14:49:01" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZFAT" "02740" "ZFAT" "05424" ## 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}}" "00163995" "" "" "" "1" "" "02470" "Barbaux, submitted" "" "" "" "France" "" "0" "" "" "" "" "00307931" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "family" "F" "" "" "" "0" "" "" "" "15DG2661" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00163995" "00000" "00307931" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 02740, 05424 ## Count = 1 "{{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}}" "0000233354" "00139" "00307931" "00006" "Familial, autosomal recessive" "2y4m" "see paper; ..., global developmental delay; hypotonia; abnormal facial shape; hypotonia; hip dysplasia; failure to thrive; intrauterine growth retardation; enlarged cisterna magna; polycythemia; coarse facial features; hypertrichosis; thick eyebrow; upslanted palpebral fissure; high forehead; strabismus; prominent nose; thin vermilion border; prominent nasal tip; high, narrow palate; arachnodactyly; pectus excavatum; generalized amyotrophy; overlapping toe; osteopenia; 11 pairs of ribs" "" "" "" "" "" "" "" "" "intellectual diability" ## 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}}" "0000164861" "00163995" "1" "02470" "00006" "2018-05-04 14:36:54" "00006" "2018-05-04 15:03:03" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000309075" "00307931" "1" "00006" "00006" "2020-08-23 12:07:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000164861" "ZFAT" "0000309075" "ZFAT" ## 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}}" "0000332317" "0" "50" "8" "135614842" "135614842" "subst" "8.12381E-6" "01804" "ZFAT_000001" "g.135614842G>A" "" "" "" "ZFAT(NM_001029939.3):c.1084C>T (p.(Arg362Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134602599G>A" "" "VUS" "" "0000332318" "0" "50" "8" "135669864" "135669864" "subst" "0" "01804" "ZFAT_000002" "g.135669864T>C" "" "" "" "ZFAT(NM_001029939.3):c.100A>G (p.(Ile34Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134657621T>C" "" "VUS" "" "0000368473" "11" "30" "8" "135614705" "135614705" "subst" "0.765346" "02470" "ZFAT_000003" "g.135614705A>G" "" "Barbaux, submitted" "" "" "9/9 monoallelic RNA expression in placenta (2/2 informative: paternal expression); bi-allelic RNA expression in blood" "Germline" "" "rs3739423" "0" "" "" "g.134602462A>G" "" "likely benign" "" "0000683537" "3" "70" "8" "135614763" "135614763" "subst" "0" "00006" "ZFAT_000007" "g.135614763C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134602520C>T" "" "likely pathogenic (recessive)" "" "0001036749" "0" "50" "8" "135596071" "135596071" "subst" "0" "01804" "ZFAT_000008" "g.135596071T>C" "" "" "" "ZFAT(NM_020863.4):c.2887+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036750" "0" "50" "8" "135602549" "135602549" "subst" "0" "01804" "ZFAT_000009" "g.135602549T>A" "" "" "" "ZFAT(NM_020863.4):c.2525A>T (p.(Asp842Val))" "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 ZFAT ## 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}}" "0000332317" "00025269" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Ter)" "" "0000332318" "00025269" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Ile46Val)" "" "0000368473" "00025269" "30" "1257" "0" "1257" "0" "c.1257T>C" "r.(1257u>c)" "p.(=)" "6" "0000683537" "00025269" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400Gln)" "" "0001036749" "00025269" "50" "2887" "4" "2887" "4" "c.2887+4A>G" "r.spl?" "p.?" "" "0001036750" "00025269" "50" "2525" "0" "2525" "0" "c.2525A>T" "r.(?)" "p.(Asp842Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000164861" "0000368473" "0000309075" "0000683537"