### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HKDC1) # 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}}" "HKDC1" "hexokinase domain containing 1" "10" "q22.1" "unknown" "NC_000010.10" "UD_132319335722" "" "https://www.LOVD.nl/HKDC1" "" "1" "23302" "80201" "617221" "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/HKDC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-18 13:45:03" "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}}" "00009424" "HKDC1" "hexokinase domain containing 1" "001" "NM_025130.3" "" "NP_079406.3" "" "" "" "-133" "3556" "2754" "70980059" "71027315" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02539" "HMSNR;CMT4G" "neuropathy, hereditary motor and sensory, Russe type (CMT4G)" "AR" "605285" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-06 14:41:54" "06964" "RP92" "retinitis pigmentosa, type 92" "AR" "619614" "" "" "" "00006" "2022-09-18 13:45:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HKDC1" "00112" "HKDC1" "06964" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00219096" "" "" "" "1" "" "00006" "{PMID:Hantke 2009:19536174}" "multi-generation family" "F;M" "yes" "Bulgaria" "" "0" "" "" "gypsy (Kalderas)" "19536174-Fam" "00296603" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "yes" "Germany" "" "0" "" "" "" "Pat36" "00417494" "" "" "" "1" "" "00006" "{PMID:Zhang 2018:30085091}" "6 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "Fam1PatIV2" "00417495" "" "" "" "1" "" "00006" "{PMID:Zhang 2018:30085091}" "2 generation family, 1 affected, unaffected parents" "M" "" "China" "" "0" "" "" "" "Fam2PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00219096" "02539" "00296603" "00198" "00417494" "00112" "00417495" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02539, 06964 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000167653" "02539" "00219096" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMSNR" "" "" "0000224009" "00198" "00296603" "00006" "Familial, autosomal recessive" "14y" "muscle not affected; central nervous system not affected; heart not affected; liver not affected; raised CK (760)" "10y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000308976" "00112" "00417494" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "RP92" "retinitis pigmentosa" "" "0000308977" "00112" "00417495" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "RP92" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000220168" "00219096" "1" "00006" "00006" "2019-02-05 13:48:09" "" "" "SEQ" "DNA" "" "" "0000297713" "00296603" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418787" "00417494" "1" "00006" "00006" "2022-09-18 14:17:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418788" "00417495" "1" "00006" "00006" "2022-09-18 14:22:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000220168" "HK1" ## 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}}" "0000289071" "0" "50" "10" "70987029" "70987029" "subst" "8.1217E-5" "01943" "HKDC1_000001" "g.70987029C>T" "" "" "" "HKDC1(NM_025130.3):c.130C>T (p.R44W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69227273C>T" "" "VUS" "" "0000455085" "3" "30" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Hantke 2009:19536174}" "" "19556225G>A" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000540526" "0" "50" "10" "70998835" "70998835" "subst" "2.03123E-5" "01943" "HKDC1_000004" "g.70998835G>A" "" "" "" "HKDC1(NM_025130.3):c.533G>A (p.R178Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69239079G>A" "" "VUS" "" "0000540527" "0" "50" "10" "71005923" "71005923" "subst" "0" "01943" "HKDC1_000005" "g.71005923G>A" "" "" "" "HKDC1(NM_025130.3):c.964G>A (p.G322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69246167G>A" "" "VUS" "" "0000660322" "3" "50" "10" "71008190" "71008190" "subst" "0.00648824" "00006" "HKDC1_000006" "g.71008190C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.69248434C>T" "" "VUS" "" "0000878645" "3" "70" "10" "70987072" "70987072" "subst" "0.000268007" "00006" "HKDC1_000007" "g.70987072C>T" "" "{PMID:Zhang 2018:30085091}" "" "" "" "Germline" "" "" "0" "" "" "g.69227316C>T" "" "likely pathogenic (recessive)" "" "0000878646" "3" "70" "10" "70987072" "70987072" "subst" "0.000268007" "00006" "HKDC1_000007" "g.70987072C>T" "" "{PMID:Zhang 2018:30085091}" "" "" "" "Germline" "" "" "0" "" "" "g.69227316C>T" "" "likely pathogenic (recessive)" "" "0000998472" "0" "50" "10" "71008373" "71008373" "subst" "1.62673E-5" "01804" "HKDC1_000008" "g.71008373G>A" "" "" "" "HKDC1(NM_025130.3):c.1459G>A (p.(Val487Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037953" "0" "50" "10" "71008316" "71008316" "subst" "4.0654E-5" "01804" "HKDC1_000009" "g.71008316A>G" "" "" "" "HKDC1(NM_025130.4):c.1402A>G (p.(Lys468Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037954" "0" "30" "10" "71010283" "71010284" "del" "0" "01804" "HKDC1_000010" "g.71010283_71010284del" "" "" "" "HKDC1(NM_025130.4):c.1717-6_1717-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HKDC1 ## 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}}" "0000289071" "00009424" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Trp)" "" "0000455085" "00009424" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "7i" "0000540526" "00009424" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0000540527" "00009424" "50" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Ser)" "" "0000660322" "00009424" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "0000878645" "00009424" "70" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0000878646" "00009424" "70" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0000998472" "00009424" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Val487Met)" "" "0001037953" "00009424" "50" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Lys468Glu)" "" "0001037954" "00009424" "30" "1717" "-6" "1717" "-5" "c.1717-6_1717-5del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000220168" "0000455085" "0000297713" "0000660322" "0000418787" "0000878645" "0000418788" "0000878646"