### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC30A8) # 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}}" "SLC30A8" "solute carrier family 30 (zinc transporter), member 8" "8" "q24.11" "unknown" "NC_000008.10" "UD_132118399478" "" "" "" "1" "1" "20303" "169026" "611145" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:09:22" "" "" "00000" "2013-11-26 22:09:22" "" ## 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}}" "00003134" "SLC30A8" "transcript variant 1" "005" "NM_173851.2" "" "NP_776250.2" "" "" "" "-230" "5143" "1110" "118147337" "118188953" "00000" "2013-11-26 22:09:22" "" "" "" "8" ## 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}}" "SLC30A8" "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 = 5 "{{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}}" "0000001277" "0" "00" "8" "118159222" "118159228" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-10-27 02:08:05" "SLC30A8_000002" "g.118159222_118159228del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0001277" "" "0000001278" "0" "00" "8" "118165323" "118165323" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-07-16 18:56:02" "SLC30A8_000001" "g.118165323C>T" "" "{PMID:24584071:24584071}" "" "rs200185429" "subst" "0" ";" "4.420" "" "" "" "" "MSCV_0001278" "" "0000003394" "0" "77" "8" "118184783" "118184783" "subst" "35" "0.229894" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:04:54" "SLC30A8_000003" "g.118184783C>T" "" "{PMID:17293876:17293876};{PMID:17463248:17463248};{PMID:17460697:17460697};{PMID:17463246:17463246};{PMID:17463249:17463249}" "" "rs13266634" "subst" "0" "; clinVar; Ensembl;" "-1.750" "" "" "" "" "MSCV_0003394" "" "0000022545" "0" "00" "8" "118159221" "118159227" "del" "35" "0.000239655" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:23:39" "SLC30A8_000004" "g.118159221_118159227del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022545" "" "0000022546" "0" "00" "8" "118165323" "118165323" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:23:50" "SLC30A8_000001" "g.118165323C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001278" "" ## 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 = 5 "{{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}}" "0000001277" "00003134" "00" "101" "0" "107" "0" "c.101_107del" "" "p.(Lys34Serfs*50)" "r.(?)" "" "" "" "" "" "-" "0000001278" "00003134" "00" "412" "0" "412" "0" "c.412C>T" "3/8" "p.(Arg138*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003394" "00003134" "77" "973" "0" "973" "0" "c.973C>T" "8/8" "p.(Arg325Trp)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.06)" "0000022545" "00003134" "00" "100" "0" "106" "0" "c.100_106del" "" "p.(Lys34Serfs*50)" "r.(?)" "" "" "" "" "" "-" "0000022546" "00003134" "00" "412" "0" "412" "0" "c.412C>T" "" "p.(Arg138*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0