### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIRT7) # 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}}" "SIRT7" "sirtuin 7" "17" "q25.3" "unknown" "NC_000017.10" "UD_132612563173" "" "https://www.LOVD.nl/SIRT7" "" "1" "14935" "51547" "606212" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-24 15:02:21" "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}}" "00018949" "SIRT7" "sirtuin 7" "001" "NM_016538.2" "" "NP_057622.1" "" "" "" "-51" "1680" "1203" "79876058" "79869815" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{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}}" "0000616930" "0" "30" "17" "79875836" "79875836" "subst" "0" "01943" "MAFG_000001" "g.79875836C>T" "" "" "" "SIRT7(NM_016538.3):c.101G>A (p.R34H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81917960C>T" "" "likely benign" "" "0000658299" "0" "50" "17" "79865722" "79865722" "subst" "0" "02327" "NPB_000002" "g.79865722C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81907846C>T" "" "VUS" "" "0000658300" "0" "50" "17" "79869147" "79869147" "subst" "0" "02327" "NPB_000003" "g.79869147C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81911271C>T" "" "VUS" "" "0000855172" "0" "30" "17" "79866806" "79866806" "subst" "8.12599E-6" "01943" "NPB_000004" "g.79866806C>T" "" "" "" "PCYT2(NM_001330518.1):c.286G>A (p.V96I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982907" "0" "50" "17" "79866817" "79866817" "subst" "4.0623E-6" "01804" "NPB_000005" "g.79866817G>A" "" "" "" "PCYT2(NM_002861.5):c.275C>T (p.(Ala92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982908" "0" "50" "17" "79866830" "79866830" "subst" "0.000158421" "01804" "NPB_000006" "g.79866830C>T" "" "" "" "PCYT2(NM_002861.5):c.262G>A (p.(Glu88Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042282" "0" "50" "17" "79867393" "79867393" "subst" "0" "01804" "NPB_000007" "g.79867393C>A" "" "" "" "PCYT2(NM_002861.5):c.175G>T (p.(Asp59Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042283" "0" "50" "17" "79869158" "79869158" "subst" "0" "01804" "NPB_000008" "g.79869158A>C" "" "" "" "PCYT2(NM_002861.5):c.74T>G (p.(Val25Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SIRT7 ## Count = 8 "{{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}}" "0000616930" "00018949" "30" "101" "0" "101" "0" "c.101G>A" "r.(?)" "p.(Arg34His)" "" "0000658299" "00018949" "50" "5773" "0" "5773" "0" "c.*4570G>A" "r.(=)" "p.(=)" "" "0000658300" "00018949" "50" "2348" "0" "2348" "0" "c.*1145G>A" "r.(=)" "p.(=)" "" "0000855172" "00018949" "30" "4689" "0" "4689" "0" "c.*3486G>A" "r.(=)" "p.(=)" "" "0000982907" "00018949" "50" "4678" "0" "4678" "0" "c.*3475C>T" "r.(=)" "p.(=)" "" "0000982908" "00018949" "50" "4665" "0" "4665" "0" "c.*3462G>A" "r.(=)" "p.(=)" "" "0001042282" "00018949" "50" "4102" "0" "4102" "0" "c.*2899G>T" "r.(=)" "p.(=)" "" "0001042283" "00018949" "50" "2337" "0" "2337" "0" "c.*1134T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0