### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KREMEN1) # 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}}" "KREMEN1" "kringle containing transmembrane protein 1" "22" "q12.1" "unknown" "NC_000022.10" "UD_132439547301" "" "http://www.LOVD.nl/KREMEN1" "" "1" "17550" "83999" "609898" "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/KREMEN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-30 01:18:17" "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}}" "00024090" "KREMEN1" "transcript variant 2" "001" "NM_032045.4" "" "NP_114434.3" "" "" "" "-53" "2706" "1479" "29469066" "29564321" "00006" "2015-12-30 01:15:43" "" "" ## 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}}" "05108" "ECTDO" "dysplasia, ectodermal, with oligodontia (ECTDO)" "" "" "" "" "" "00006" "2015-12-30 01:21:12" "" "" "06539" "ECTD13" "Ectodermal dysplasia 13, hair/tooth type" "AR" "617392" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KREMEN1" "05108" "KREMEN1" "06539" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00056411" "" "" "" "1" "" "01496" "Issa EJHG2016" "proband family SO1" "M" "yes" "Palestine" "" "0" "please see Issa et al EJHG2016" "" "Palestinian" "" "00056428" "" "" "" "1" "" "01496" "Issa EJHG2016" "" "" "yes" "Palestine" "" "0" "please see Issa et al EJHG2016" "" "Palestinian" "" "00056429" "" "" "" "1" "" "01496" "Issa EJHG2016" "" "" "yes" "Palestine" "" "0" "please see Issa et al EJHG2016" "" "Palestinian" "" "00056430" "" "" "" "1" "" "01496" "Issa EJHG2016" "" "" "yes" "Palestine" "" "0" "please see Issa et al EJHG2016" "" "Palestinian" "" "00464413" "" "" "" "1" "" "04066" "Rosen and Holling et al. 2025 - submitted" "" "M" "" "Germany" "" "" "" "" "" "" "00464414" "" "" "" "2" "" "04066" "Rosen and Holling et al. 2025 - submitted" "2 affected siblings" "F" "yes" "Egypt" "" "" "" "" "" "2.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00056411" "05108" "00056428" "05108" "00056429" "05108" "00056430" "05108" "00464413" "06539" "00464414" "06539" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05108, 06539 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000043036" "05108" "00056411" "01496" "Familial, autosomal recessive" "" "ectodermal dysplasia (HP:0000968), oligodontia (HP:0000677)" "" "" "" "" "" "" "" "" "" "0000043037" "05108" "00056428" "01496" "Familial, autosomal recessive" "" "ectodermal dysplasia (HP:0000968), oligodontia (HP:0000677)" "" "" "" "" "" "" "" "" "" "0000043038" "05108" "00056429" "01496" "Familial, autosomal recessive" "" "ectodermal dysplasia (HP:0000968), oligodontia (HP:0000677)" "" "" "" "" "" "" "" "" "" "0000043039" "05108" "00056430" "01496" "Familial, autosomal recessive" "" "ectodermal dysplasia (HP:0000968), oligodontia (HP:0000677)" "" "" "" "" "" "" "" "" "" "0000350434" "06539" "00464413" "04066" "Familial, autosomal recessive" "" "tooth agenesis and mild ectodermal features" "" "" "" "" "" "" "" "" "Ectodermal dysplasia" "0000350435" "06539" "00464414" "04066" "Familial, autosomal recessive" "" "tooth agenesis and mild ectodermal features" "" "" "" "" "" "" "" "" "Ectodermal dysplasia" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056370" "00056411" "1" "01496" "01496" "2015-12-28 21:39:27" "00006" "2016-01-03 09:33:10" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000056387" "00056428" "1" "01496" "01496" "2015-12-28 21:39:27" "00006" "2016-01-03 23:48:05" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000056388" "00056429" "1" "01496" "01496" "2015-12-28 21:39:27" "00006" "2016-01-03 23:47:21" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000056389" "00056430" "1" "01496" "01496" "2015-12-28 21:39:27" "00006" "2016-01-03 23:46:51" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000466048" "00464413" "1" "04066" "04066" "2025-03-11 12:46:54" "" "" "SEQ-NG-I" "DNA" "" "WES (trio)" "0000466049" "00464414" "1" "04066" "04066" "2025-03-11 13:05:37" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000056370" "KREMEN1" "0000056387" "KREMEN1" "0000056388" "KREMEN1" "0000056389" "KREMEN1" "0000466049" "KREMEN1" ## 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 = 9 "{{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}}" "0000086609" "3" "70" "22" "29521399" "29521399" "subst" "0" "01496" "KREMEN1_000001" "g.29521399T>C" "" "Issa EJHG" "" "" "" "Germline" "yes" "" "0" "" "" "g.29125411T>C" "" "likely pathogenic" "" "0000086626" "3" "70" "22" "29521399" "29521399" "subst" "0" "01496" "KREMEN1_000001" "g.29521399T>C" "" "Issa EJHG" "" "" "" "Germline" "yes" "" "0" "" "" "g.29125411T>C" "" "likely pathogenic" "" "0000086627" "3" "70" "22" "29521399" "29521399" "subst" "0" "01496" "KREMEN1_000001" "g.29521399T>C" "" "Issa EJHG" "" "" "" "Germline" "yes" "" "0" "" "" "g.29125411T>C" "" "likely pathogenic" "" "0000086628" "3" "70" "22" "29521399" "29521399" "subst" "0" "01496" "KREMEN1_000001" "g.29521399T>C" "" "Issa EJHG" "" "" "" "Germline" "yes" "" "0" "" "" "g.29125411T>C" "" "likely pathogenic" "" "0000328967" "0" "50" "22" "29521314" "29521314" "subst" "0.00107707" "01804" "KREMEN1_000002" "g.29521314G>A" "" "" "" "KREMEN1(NM_001039570.2):c.541G>A (p.(Gly181Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29125326G>A" "" "VUS" "" "0001015933" "0" "30" "22" "29534609" "29534609" "subst" "0.000154425" "02325" "KREMEN1_000003" "g.29534609C>T" "" "" "" "KREMEN1(NM_032045.5):c.965-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029870" "3" "90" "22" "29521270" "29521270" "subst" "4.06336E-6" "04066" "KREMEN1_000004" "g.29521270G>A" "" "Rosen and Holling et al. 2025 - submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.29125282G>A" "" "pathogenic (recessive)" "other" "0001029871" "3" "90" "22" "29490284" "29490284" "subst" "0" "04066" "KREMEN1_000005" "g.29490284C>T" "" "Rosen and Holling et al. 2025 - submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.29094296C>T" "" "pathogenic (recessive)" "other" "0001046816" "0" "50" "22" "29533599" "29533599" "subst" "0" "02325" "KREMEN1_000006" "g.29533599G>A" "" "" "" "KREMEN1(NM_032045.5):c.901G>A (p.V301I)" "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 KREMEN1 ## Count = 9 "{{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}}" "0000086609" "00024090" "70" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Phe209Ser)" "5" "0000086626" "00024090" "70" "626" "0" "626" "0" "c.626T>C" "r.626u>c" "p.Phe209Ser" "5" "0000086627" "00024090" "70" "626" "0" "626" "0" "c.626T>C" "r.626u>c" "p.Phe209Ser" "5" "0000086628" "00024090" "70" "626" "0" "626" "0" "c.626T>C" "r.626u>c" "p.Phe209Ser" "5" "0000328967" "00024090" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Arg)" "" "0001015933" "00024090" "30" "965" "-3" "965" "-3" "c.965-3C>T" "r.spl?" "p.?" "" "0001029870" "00024090" "90" "497" "0" "497" "0" "c.497G>A" "r.(497G>A)" "p.(Gly166Asp)" "5" "0001029871" "00024090" "90" "136" "0" "136" "0" "c.136C>T" "r.(136C>T)" "p.(Gln46*)" "2" "0001046816" "00024090" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000056370" "0000086609" "0000056387" "0000086626" "0000056388" "0000086627" "0000056389" "0000086628" "0000466048" "0001029870" "0000466049" "0001029871"