### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT83) # 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}}" "KRT83" "keratin 83" "12" "q12-q13" "unknown" "NC_000012.11" "UD_132084430211" "" "https://www.LOVD.nl/KRT83" "" "1" "6460" "3889" "602765" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KRT83_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2023-12-07 08:44:03" "00000" "2024-04-19 20:27:30" ## 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}}" "00001701" "KRT83" "keratin 83" "001" "NM_002282.3" "" "NP_002273.3" "" "" "" "-63" "1812" "1482" "52708085" "52715182" "00000" "2012-09-13 13:46:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01443" "MNLIX" "Monilethrix" "AD" "158000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06180" "EKVP5" "erythrokeratodermia variabilis et progressiva, type 5" "AR" "617756" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-12-07 08:43:16" "07050" "EKVP" "erythrokeratodermia variabilis et progressiva" "" "" "" "" "" "00006" "2023-12-07 08:43:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KRT83" "01443" "KRT83" "06180" "KRT83" "07050" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00290746" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290747" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00443921" "" "" "" "1" "" "00006" "{PMID:van Steensel 2005:15744029}" "patient" "F" "" "Netherlands" "" "0" "" "" "" "" "00443924" "" "" "" "1" "" "00006" "{PMID:van Steensel 2005:15744029}" "controls" "" "" "" "" "0" "" "" "" "" "00443925" "" "" "" "1" "" "00006" "{PMID:van Steensel 2005:15744029}" "controls" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00290746" "00198" "00290747" "00198" "00443921" "01443" "00443924" "00000" "00443925" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 01443, 06180, 07050 ## 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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000333184" "01443" "00443921" "00006" "Familial, autosomal dominant" "6y" "see paper; ..., 6y-increasing hair loss (occipital region) exacerbated by mechanical stress, inability to grow long hair" "" "" "" "" "" "" "" "" "MNLIX" "monilethrix" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000291914" "00290746" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291915" "00290747" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445417" "00443921" "1" "00006" "00006" "2010-03-16 17:09:36" "" "" "SEQ" "DNA" "" "" "0000445420" "00443924" "1" "00006" "00006" "2010-03-16 17:09:36" "" "" "SEQ" "DNA" "" "" "0000445421" "00443925" "1" "00006" "00006" "2010-03-16 17:09:36" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000445417" "KRT83" "0000445420" "KRT83" "0000445421" "KRT83" ## 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 = 16 "{{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}}" "0000005147" "0" "50" "12" "52710721" "52710721" "subst" "0.355124" "00037" "KRT83_000006" "g.52710721G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.52316937G>C" "" "VUS" "" "0000248659" "0" "10" "12" "52708565" "52708565" "subst" "0.653728" "02325" "KRT83_000013" "g.52708565A>G" "" "" "" "KRT83(NM_002282.3):c.1332T>C (p.D444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52314781A>G" "" "benign" "" "0000281940" "0" "10" "12" "52708420" "52708420" "subst" "0.651721" "02325" "KRT83_000012" "g.52708420G>A" "" "" "" "KRT83(NM_002282.3):c.1477C>T (p.H493Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52314636G>A" "" "benign" "" "0000281941" "0" "10" "12" "52712975" "52712975" "subst" "0.325052" "02325" "KRT83_000003" "g.52712975G>A" "" "" "" "KRT83(NM_002282.3):c.558C>T (p.N186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52319191G>A" "" "benign" "" "0000281942" "0" "10" "12" "52711450" "52711450" "subst" "0.658128" "02325" "KRT83_000004" "g.52711450T>C" "" "" "" "KRT83(NM_002282.3):c.750+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52317666T>C" "" "benign" "" "0000290576" "0" "10" "12" "52711549" "52711549" "subst" "0.00540918" "01943" "KRT83_000005" "g.52711549G>T" "" "" "" "KRT83(NM_002282.3):c.666C>A (p.C222*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52317765G>T" "" "benign" "" "0000548535" "0" "10" "12" "52711747" "52711747" "subst" "0.0121838" "02325" "KRT83_000007" "g.52711747C>A" "" "" "" "KRT83(NM_002282.3):c.601G>T (p.E201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52317963C>A" "" "benign" "" "0000648603" "1" "30" "12" "52711747" "52711747" "subst" "0.0121838" "03575" "KRT83_000007" "g.52711747C>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs146753414}" "Germline" "" "rs146753414" "0" "" "" "g.52317963C>A" "" "likely benign" "" "0000648604" "1" "30" "12" "52713019" "52713019" "subst" "5.68833E-5" "03575" "KRT83_000008" "g.52713019C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140443749}" "Germline" "" "rs140443749" "0" "" "" "g.52319235C>T" "" "likely benign" "" "0000805826" "0" "30" "12" "52710276" "52710276" "subst" "0.00132377" "01943" "KRT83_000009" "g.52710276G>A" "" "" "" "KRT83(NM_002282.3):c.1017C>T (p.A339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805827" "0" "50" "12" "52710757" "52710757" "subst" "8.1211E-6" "02325" "KRT83_000010" "g.52710757C>A" "" "" "" "KRT83(NM_002282.3):c.801G>T (p.K267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863045" "0" "50" "12" "52714801" "52714801" "subst" "4.47224E-5" "02325" "KRT83_000011" "g.52714801C>T" "" "" "" "KRT83(NM_002282.3):c.319G>A (p.V107M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952416" "21" "90" "12" "52709720" "52709720" "subst" "8.12691E-6" "00006" "KRT83_000001" "g.52709720C>T" "" "{PMID:van Steensel 2005:15744029}" "" "" "" "Germline" "" "" "0" "" "" "g.52315936C>T" "" "pathogenic" "" "0000952418" "0" "10" "12" "52713088" "52713088" "subst" "0.114106" "00006" "KRT83_000002" "g.52713088G>A" "0.12" "{PMID:van Steensel 2005:15744029}" "" "" "" "Germline" "" "" "0" "" "" "g.52319304G>A" "" "benign" "" "0000952419" "0" "10" "12" "52712975" "52712975" "subst" "0.325052" "00006" "KRT83_000003" "g.52712975G>A" "0.26" "{PMID:van Steensel 2005:15744029}" "" "" "" "Germline" "" "" "0" "" "" "g.52319191G>A" "" "benign" "" "0000980356" "0" "50" "12" "52714820" "52714820" "subst" "0" "01804" "KRT83_000014" "g.52714820T>C" "" "" "" "KRT83(NM_002282.3):c.300A>G (p.(Ile100Met))" "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 KRT83 ## Count = 16 "{{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}}" "0000005147" "00001701" "50" "837" "0" "837" "0" "c.837C>G" "r.(?)" "p.(Ile279Met)" "" "0000248659" "00001701" "10" "1332" "0" "1332" "0" "c.1332T>C" "r.(?)" "p.(Asp444=)" "" "0000281940" "00001701" "10" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(His493Tyr)" "" "0000281941" "00001701" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Asn186=)" "" "0000281942" "00001701" "10" "750" "15" "750" "15" "c.750+15A>G" "r.(=)" "p.(=)" "" "0000290576" "00001701" "10" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(Cys222Ter)" "" "0000548535" "00001701" "10" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Glu201Ter)" "" "0000648603" "00001701" "30" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Glu201*)" "" "0000648604" "00001701" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Glu172Lys)" "" "0000805826" "00001701" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ala339=)" "" "0000805827" "00001701" "50" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Lys267Asn)" "" "0000863045" "00001701" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Met)" "" "0000952416" "00001701" "90" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "" "0000952418" "00001701" "10" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Cys)" "" "0000952419" "00001701" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Asn186=)" "" "0000980356" "00001701" "50" "300" "0" "300" "0" "c.300A>G" "r.(?)" "p.(Ile100Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005147" "0000291914" "0000648603" "0000291915" "0000648604" "0000445417" "0000952416" "0000445420" "0000952418" "0000445421" "0000952419"