### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FHIT) # 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}}" "FHIT" "fragile histidine triad" "3" "p14.2" "unknown" "NC_000003.11" "UD_132118400870" "" "https://www.LOVD.nl/HTTFHIT" "" "1" "3701" "2272" "601153" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-03 14:44:15" "00006" "2025-08-26 16:03:40" ## 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}}" "00007948" "FHIT" "fragile histidine triad gene, transcript variant 1" "002" "NM_002012.2" "" "NP_002003.1" "" "" "" "-371" "719" "444" "61237133" "59735036" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00435528" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "" "F" "" "" "" "0" "" "" "" "Pat56" "00466041" "" "" "" "1" "" "04866" "" "" "M" "" "Hong Kong" "" "" "" "" "Chinese" "086C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00435528" "05611" "00466041" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00291, 05611 ## 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}}" "0000325715" "05611" "00435528" "00006" "Unknown" "25y" "see paper; ..., language/speech delay; no motor delay; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; depression; abnormal eating behaviour; 3y-no eye contac; no interest in socializing with others; echolalia; OCD; seizures/epilepsy; strabismus; no congenital heart disease;" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "0000351425" "00291" "00466041" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000437007" "00435528" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467694" "00466041" "1" "04866" "04866" "2025-07-13 10:23:32" "" "" "MS;SEQ-NG-I" "DNA" "blood" "" ## 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 = 10 "{{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}}" "0000283205" "0" "10" "3" "59999799" "59999799" "subst" "0.00252815" "02329" "FHIT_000003" "g.59999799C>T" "" "" "" "FHIT(NM_002012.4):c.183G>A (p.T61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60014073C>T" "" "benign" "" "0000283207" "0" "30" "3" "59737999" "59737999" "subst" "0.00036275" "02329" "FHIT_000001" "g.59737999C>T" "" "" "" "FHIT(NM_002012.4):c.397G>A (p.E133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59752273C>T" "" "likely benign" "" "0000283208" "0" "10" "3" "60522690" "60522690" "subst" "0.00591059" "02329" "FHIT_000005" "g.60522690C>A" "" "" "" "FHIT(NM_002012.4):c.6G>T (p.S2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60536957C>A" "" "benign" "" "0000283209" "0" "50" "3" "60522599" "60522599" "subst" "0.000189028" "02329" "FHIT_000004" "g.60522599G>T" "" "" "" "FHIT(NM_002012.4):c.97C>A (p.P33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60536866G>T" "" "VUS" "" "0000520550" "0" "10" "3" "59738064" "59738064" "dup" "0" "02329" "FHIT_000006" "g.59738064dup" "" "" "" "FHIT(NM_002012.4):c.349-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59752338dup" "" "benign" "" "0000520551" "0" "30" "3" "60522690" "60522690" "subst" "0.000189998" "02329" "FHIT_000007" "g.60522690C>T" "" "" "" "FHIT(NM_002012.4):c.6G>A (p.S2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60536957C>T" "" "likely benign" "" "0000931788" "1" "90" "3" "59735037" "61237133" "del" "0" "00006" "FHIT_000008" "g.(?_59735037)_(61237133_?)del" "" "{PMID:Rots 2023:37196654}" "" "del FHIT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_59749311)_(61251459_?)del" "" "VUS" "" "0000975968" "0" "30" "3" "59908119" "59908119" "subst" "0.000605602" "01804" "FHIT_000009" "g.59908119G>A" "" "" "" "FHIT(NM_002012.4):c.301C>T (p.(Pro101Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034145" "0" "30" "3" "59999942" "59999942" "subst" "0" "01804" "FHIT_000010" "g.59999942A>G" "" "" "" "FHIT(NM_001320901.2):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046913" "0" "50" "3" "60939295" "60939295" "subst" "0" "04866" "FHIT_000011" "g.60939295T>C" "1/12 trios" "" "" "" "" "De novo" "-" "" "0" "" "" "g.60953623T>C" "" "VUS" "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 FHIT ## Count = 10 "{{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}}" "0000283205" "00007948" "10" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Thr61=)" "" "0000283207" "00007948" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Glu133Lys)" "" "0000283208" "00007948" "10" "6" "0" "6" "0" "c.6G>T" "r.(?)" "p.(Ser2=)" "" "0000283209" "00007948" "50" "97" "0" "97" "0" "c.97C>A" "r.(?)" "p.(Pro33Thr)" "" "0000520550" "00007948" "10" "349" "-9" "349" "-9" "c.349-9dup" "r.(=)" "p.(=)" "" "0000520551" "00007948" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ser2=)" "" "0000931788" "00007948" "90" "0" "0" "0" "0" "c.-371_*274{0}" "r.0" "p.0" "" "0000975968" "00007948" "30" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Pro101Ser)" "" "0001034145" "00007948" "30" "104" "-64" "104" "-64" "c.104-64T>C" "r.(=)" "p.(=)" "" "0001046913" "00007948" "50" "-111" "88424" "-111" "88424" "c.-111+88424A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000437007" "0000931788" "0000467694" "0001046913"