### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GCK) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "GCK" "glucokinase (hexokinase 4)" "7" "p15.3-p15.1" "unknown" "NC_000007.13" "UD_132085242183" "" "" "" "1" "1" "4195" "2645" "138079" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "{{iNote}}" "{{chrom}}" "00000762" "GCK" "transcript variant 1" "001" "NM_000162.3" "" "NP_000153.1" "" "" "" "-470" "2263" "1398" "44229022" "44183870" "00001" "2013-11-12 21:39:53" "" "" "" "7" "00000763" "GCK" "transcript variant 2" "002" "NM_033507.1" "" "NP_277042.1" "" "" "" "-168" "2266" "1401" "44198887" "44183870" "00001" "2013-11-12 21:39:53" "" "" "" "7" "00000764" "GCK" "transcript variant 3" "003" "NM_033508.1" "" "NP_277043.1" "" "" "" "-298" "2260" "1395" "44198887" "44183870" "00001" "2013-11-12 21:39:53" "" "" "" "7" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GCK" "00102" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 6 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000022192" "0" "99" "7" "44189603" "44189603" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-02 19:31:38" "GCK_000001" "g.44189603C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022192" "" "0000026591" "0" "00" "7" "44184775" "44184775" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:15:41" "GCK_000006" "g.44184775G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026592" "0" "00" "7" "44184823" "44184823" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:57:11" "GCK_000005" "g.44184823G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026593" "0" "00" "7" "44187346" "44187346" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:50:21" "GCK_000002" "g.44187346C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026594" "0" "00" "7" "44189362" "44189362" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-18 01:39:10" "GCK_000003" "g.44189362C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026595" "0" "00" "7" "44189371" "44189371" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:50:49" "GCK_000004" "g.44189371C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 18 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000022192" "00000762" "00" "544" "0" "544" "0" "c.544G>A" "" "p.(Val182Met)" "r.(?)" "" "" "" "" "" "-" "0000022192" "00000763" "00" "547" "0" "547" "0" "c.547G>A" "" "p.(Val183Met)" "r.(?)" "" "" "" "" "" "-" "0000022192" "00000764" "00" "541" "0" "541" "0" "c.541G>A" "" "p.(Val181Met)" "r.(?)" "" "" "" "" "" "-" "0000026591" "00000762" "00" "1358" "0" "1358" "0" "c.1358C>T" "" "p.(Ser453Leu)" "r.(?)" "" "" "" "" "" "-" "0000026591" "00000763" "00" "1361" "0" "1361" "0" "c.1361C>T" "" "p.(Ser454Leu)" "r.(?)" "" "" "" "" "" "-" "0000026591" "00000764" "00" "1355" "0" "1355" "0" "c.1355C>T" "" "p.(Ser452Leu)" "r.(?)" "" "" "" "" "" "-" "0000026592" "00000762" "00" "1310" "0" "1310" "0" "c.1310C>T" "" "p.(Thr437Ile)" "r.(?)" "" "" "" "" "" "-" "0000026592" "00000763" "00" "1313" "0" "1313" "0" "c.1313C>T" "" "p.(Thr438Ile)" "r.(?)" "" "" "" "" "" "-" "0000026592" "00000764" "00" "1307" "0" "1307" "0" "c.1307C>T" "" "p.(Thr436Ile)" "r.(?)" "" "" "" "" "" "-" "0000026593" "00000762" "00" "766" "0" "766" "0" "c.766G>A" "" "p.(Glu256Lys)" "r.(?)" "" "" "" "" "" "-" "0000026593" "00000763" "00" "769" "0" "769" "0" "c.769G>A" "" "p.(Glu257Lys)" "r.(?)" "" "" "" "" "" "-" "0000026593" "00000764" "00" "763" "0" "763" "0" "c.763G>A" "" "p.(Glu255Lys)" "r.(?)" "" "" "" "" "" "-" "0000026594" "00000762" "00" "676" "0" "676" "0" "c.676G>A" "" "p.(Val226Met)" "r.(?)" "" "" "" "" "" "-" "0000026594" "00000763" "00" "679" "0" "679" "0" "c.679G>A" "" "p.(Val227Met)" "r.(?)" "" "" "" "" "" "-" "0000026594" "00000764" "00" "673" "0" "673" "0" "c.673G>A" "" "p.(Val225Met)" "r.(?)" "" "" "" "" "" "-" "0000026595" "00000762" "00" "667" "0" "667" "0" "c.667G>A" "" "p.(Gly223Ser)" "r.(?)" "" "" "" "" "" "-" "0000026595" "00000763" "00" "670" "0" "670" "0" "c.670G>A" "" "p.(Gly224Ser)" "r.(?)" "" "" "" "" "" "-" "0000026595" "00000764" "00" "664" "0" "664" "0" "c.664G>A" "" "p.(Gly222Ser)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0