### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC2A2) # 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}}" "SLC2A2" "solute carrier family 2 (facilitated glucose transporter), member 2" "3" "q26.2-q27" "unknown" "NC_000003.11" "UD_132118712297" "" "" "" "1" "1" "11006" "6514" "138160" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:01:25" "" "" "00000" "2013-11-26 22:01:25" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003114" "SLC2A2" "solute carrier family 2 (facilitated glucose transporter), member 2" "001" "NM_000340.1" "" "NP_000331.1" "" "" "" "-309" "3130" "1575" "170714137" "170744768" "00000" "2013-11-26 22:01:25" "" "" "" "3" ## 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}}" "SLC2A2" "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}}" "0000000969" "0" "99" "3" "170724960" "170724960" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-27 10:07:29" "SLC2A2_000001" "g.170724960C>T" "" "{PMID:8027028:8027028};{PMID:8063045:8063045};{PMID:11810292:11810292}" "" "rs121909741" "subst" "0" "; clinVar; Ensembl;" "5.730" "" "" "" "" "MSCV_0000969" "" "0000020542" "0" "00" "3" "170716025" "170716025" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-27 10:07:23" "SLC2A2_000008" "g.170716025C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020542" "" "0000020543" "0" "99" "3" "170723073" "170723073" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-27 10:07:19" "SLC2A2_000007" "g.170723073C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020543" "" "0000020544" "0" "55" "3" "170724960" "170724960" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-27 10:07:26" "SLC2A2_000001" "g.170724960C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000969" "" "0000026174" "0" "00" "3" "170715835" "170715835" "subst" "35" "0.00107643" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:40" "SLC2A2_000010" "g.170715835G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026175" "0" "00" "3" "170732471" "170732471" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-07-19 03:22:44" "SLC2A2_000009" "g.170732471C>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 = 6 "{{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}}" "0000000969" "00003114" "99" "589" "0" "589" "0" "c.589G>A" "5/11" "p.(Val197Ile)" "r.(?)" "probably_damaging(0.954)" "" "missense_variant" "" "" "tolerated(0.07)" "0000020542" "00003114" "00" "1331" "0" "1331" "0" "c.1331G>A" "" "p.(Trp444*)" "r.(?)" "" "" "" "" "" "-" "0000020543" "00003114" "00" "963" "1" "963" "1" "c.963+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020544" "00003114" "00" "589" "0" "589" "0" "c.589G>A" "" "p.(Val197Ile)" "r.(?)" "" "" "" "" "" "-" "0000026174" "00003114" "00" "1432" "0" "1432" "0" "c.1432C>G" "" "p.(Leu478Val)" "r.(?)" "" "" "" "" "" "-" "0000026175" "00003114" "00" "158" "0" "158" "0" "c.158G>A" "" "p.(Arg53Gln)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0