### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERPINC1) # 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}}" "SERPINC1" "serpin peptidase inhibitor, clade C (antithrombin), member 1" "1" "q25.1" "unknown" "NG_012462.1" "UD_132118352736" "" "http://www.LOVD.nl/SERPINC1" "" "1" "775" "462" "107300" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SERPINC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-19 11:26:27" "00000" "2025-07-08 13:22:38" ## 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}}" "00018723" "SERPINC1" "serpin peptidase inhibitor, clade C (antithrombin), member 1" "001" "NM_000488.3" "" "NP_000479.1" "" "" "" "-119" "1480" "1395" "173886516" "173872942" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03263" "AT3D" "antithrombin III deficiency (AT3D)" "AD;AR" "613118" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SERPINC1" "03263" ## 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}}" "00087227" "" "" "" "1" "" "00141" "" "" "F" "no" "(Russian Federation)" "" "0" "" "" "white" "" "00208839" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00289602" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00431009" "" "" "" "2" "" "03256" "{DOI:Mulder 2017:10.1111/bjh.14658}" "A British family with 2 affected individuals" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00087227" "03263" "00208839" "03263" "00289602" "00198" "00431009" "03263" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03263 ## Count = 2 "{{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}}" "0000066760" "03263" "00087227" "00141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321618" "03263" "00431009" "03256" "Familial" "" "Proband presenting with thrombophilic disorders" "" "" "" "" "" "" "" "" "29y" "" "" ## 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}}" "0000087366" "00087227" "1" "00141" "00141" "2016-11-16 09:25:24" "" "" "SEQ" "DNA" "leucocytes" "" "0000209884" "00208839" "1" "01741" "01741" "2018-12-18 11:48:07" "" "" "SEQ" "DNA" "" "" "0000290770" "00289602" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000432420" "00431009" "1" "03256" "03256" "2023-01-25 18:22:10" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000087366" "SERPINC1" "0000209884" "SERPINC1" "0000432420" "SERPINC1" ## 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 = 15 "{{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}}" "0000140537" "11" "70" "1" "173879992" "173879992" "subst" "0" "00141" "SERPINC1_000001" "g.173879992C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.173910854C>G" "" "likely pathogenic" "" "0000298119" "0" "10" "1" "173878832" "173878832" "subst" "0.392027" "02325" "SERPINC1_000002" "g.173878832T>C" "" "" "" "SERPINC1(NM_000488.4):c.1011A>G (p.Q337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.173909694T>C" "" "benign" "" "0000298120" "0" "10" "1" "173878862" "173878862" "subst" "0.399057" "02325" "SERPINC1_000003" "g.173878862T>C" "" "" "" "SERPINC1(NM_000488.4):c.981A>G (p.V327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.173909724T>C" "" "benign" "" "0000440123" "0" "70" "1" "173873064" "173873064" "subst" "0" "01741" "SERPINC1_000004" "g.173873064A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.173903926A>T" "" "likely pathogenic" "" "0000504313" "0" "70" "1" "173873176" "173873176" "subst" "0.000861347" "01943" "SERPINC1_000005" "g.173873176C>A" "" "" "" "SERPINC1(NM_000488.3):c.1246G>T (p.A416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173904038C>A" "" "likely pathogenic" "" "0000504314" "0" "70" "1" "173879905" "173879905" "subst" "8.12249E-6" "02327" "SERPINC1_000006" "g.173879905G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173910767G>A" "" "likely pathogenic" "" "0000504315" "0" "90" "1" "173883722" "173883722" "subst" "0" "02327" "SERPINC1_000007" "g.173883722G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173914584G>C" "" "pathogenic" "" "0000504316" "0" "50" "1" "173884010" "173884010" "subst" "0.00178786" "02327" "SERPINC1_000008" "g.173884010A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173914872A>T" "" "VUS" "" "0000647459" "1" "70" "1" "173883933" "173883933" "subst" "1.62529E-5" "03575" "SERPINC1_000009" "g.173883933G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28929469}" "Germline" "" "rs28929469" "0" "" "" "g.173914795G>A" "" "likely pathogenic" "" "0000848395" "0" "90" "1" "173873052" "173873052" "subst" "0" "02327" "SERPINC1_000010" "g.173873052C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910847" "0" "90" "1" "173878986" "173878986" "subst" "0" "02325" "SERPINC1_000011" "g.173878986T>G" "" "" "" "SERPINC1(NM_000488.4):c.857A>C (p.Q286P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000917898" "0" "90" "1" "173879905" "173879905" "subst" "8.12249E-6" "03256" "SERPINC1_000006" "g.173879905G>A" "" "{DOI:Mulder 2017:10.1111/bjh.14658}" "" "" "Thr250 is located on s3A and is underneath helix F and the helix F-loop, p.(Thr250Ile) variant product is expected to increase the rate of conversion to latent form. With a consistent antigenic level, the variant belongs to type II." "Germline" "?" "" "" "" "" "g.173910767G>A" "" "pathogenic" "" "0000923012" "0" "90" "1" "173873176" "173873176" "subst" "0.000861347" "02327" "SERPINC1_000005" "g.173873176C>A" "" "" "" "SERPINC1(NM_000488.3):c.1246G>T (p.A416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923013" "0" "90" "1" "173883881" "173883881" "subst" "0.000852847" "02327" "SERPINC1_000012" "g.173883881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973469" "0" "90" "1" "173883708" "173883708" "subst" "1.62439E-5" "02329" "SERPINC1_000013" "g.173883708G>A" "" "" "" "SERPINC1(NM_000488.4):c.391C>T (p.L131F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SERPINC1 ## Count = 15 "{{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}}" "0000140537" "00018723" "70" "662" "0" "662" "0" "c.662G>C" "r.(?)" "p.(Trp221Ser)" "4" "0000298119" "00018723" "10" "1011" "0" "1011" "0" "c.1011A>G" "r.(?)" "p.(Gln337=)" "" "0000298120" "00018723" "10" "981" "0" "981" "0" "c.981A>G" "r.(?)" "p.(Val327=)" "" "0000440123" "00018723" "70" "1358" "0" "1358" "0" "c.1358T>A" "r.(?)" "p.(Ile453Asn)" "" "0000504313" "00018723" "70" "1246" "0" "1246" "0" "c.1246G>T" "r.(?)" "p.(Ala416Ser)" "" "0000504314" "00018723" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0000504315" "00018723" "90" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Ala126Gly)" "" "0000504316" "00018723" "50" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Val30Glu)" "" "0000647459" "00018723" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0000848395" "00018723" "90" "1370" "0" "1370" "0" "c.1370G>C" "r.(?)" "p.(Arg457Thr)" "" "0000910847" "00018723" "90" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(Gln286Pro)" "" "0000917898" "00018723" "90" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "4" "0000923012" "00018723" "90" "1246" "0" "1246" "0" "c.1246G>T" "r.(?)" "p.(Ala416Ser)" "" "0000923013" "00018723" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Pro73Leu)" "" "0000973469" "00018723" "90" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Leu131Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000087366" "0000140537" "0000209884" "0000440123" "0000290770" "0000647459" "0000432420" "0000917898"