### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT74) # 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}}" "KRT74" "keratin 74" "12" "q13.13" "unknown" "NG_012321.1" "UD_132084516935" "" "http://www.LOVD.nl/KRT74" "Human Intermediate Filament Database " "1" "28929" "121391" "608248" "1" "1" "1" "1" "Establishment of this LSDB was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KRT74_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-06-24 00:00:00" "00006" "2015-12-02 10:36:37" "00000" "2025-11-01 13:22:20" ## 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}}" "00010805" "KRT74" "keratin 74" "001" "NM_175053.3" "" "NP_778223.2" "" "" "" "-48" "2740" "1590" "52967609" "52959603" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01614" "ADWH" "woolly hair, autosomal dominant (ADWH)" "AD" "194300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03503" "HYPT3;HTSS2" "hypotrichosis, type 3 (HYPT-3, hypotrichosis simplex of the scalp (HTSS-2))" "AD" "613981" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04550" "ECTD7" "dysplasia, ectodermal, type 7, hair/nail (ECTD-7)" "AR" "614929" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KRT74" "01614" "KRT74" "03503" "KRT74" "04550" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00054926" "" "" "" "9" "" "00006" "" "" "?" "" "" "" "0" "" "" "Pakistani" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00054926" "01614" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01614, 03503, 04550 ## Count = 1 "{{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}}" "0000041581" "01614" "00054926" "00006" "Familial" "" "Woolly Hair Autosomal Dominant" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054879" "00054926" "1" "00006" "00006" "2010-07-22 11:33:16" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000054879" "KRT74" ## 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 = 31 "{{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}}" "0000084900" "1" "90" "12" "52967118" "52967118" "subst" "0" "00006" "KRT74_000001" "g.52967118G>C" "" "{PMID: Dahlqvist 2010:20226437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52573334G>C" "" "pathogenic" "" "0000248821" "0" "10" "12" "52966390" "52966390" "subst" "0.147779" "02325" "KRT74_000008" "g.52966390A>T" "" "" "" "KRT74(NM_175053.4):c.533T>A (p.L178Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52572606A>T" "" "benign" "" "0000249172" "0" "10" "12" "52967080" "52967080" "subst" "0.137096" "02325" "KRT74_000009" "g.52967080A>G" "" "" "" "KRT74(NM_175053.4):c.471+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52573296A>G" "" "benign" "" "0000281934" "0" "10" "12" "52965782" "52965782" "subst" "0.732548" "02325" "KRT74_000007" "g.52965782T>C" "" "" "" "KRT74(NM_175053.4):c.693A>G (p.E231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52571998T>C" "" "benign" "" "0000281935" "0" "10" "12" "52965761" "52965761" "subst" "0.797906" "02325" "KRT74_000006" "g.52965761C>T" "" "" "" "KRT74(NM_175053.4):c.714G>A (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52571977C>T" "" "benign" "" "0000281936" "0" "10" "12" "52965722" "52965722" "subst" "0.732595" "02325" "KRT74_000005" "g.52965722T>C" "" "" "" "KRT74(NM_175053.4):c.747+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52571938T>C" "" "benign" "" "0000281937" "0" "10" "12" "52965173" "52965173" "subst" "0.732695" "02325" "KRT74_000004" "g.52965173T>G" "" "" "" "KRT74(NM_175053.4):c.813A>C (p.E271D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52571389T>G" "" "benign" "" "0000290572" "0" "50" "12" "52962041" "52962041" "subst" "8.12189E-6" "01943" "KRT74_000002" "g.52962041G>A" "" "" "" "KRT74(NM_175053.3):c.1267C>T (p.R423C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52568257G>A" "" "VUS" "" "0000290573" "0" "50" "12" "52964504" "52964504" "subst" "4.06078E-6" "01943" "KRT74_000003" "g.52964504C>G" "" "" "" "KRT74(NM_175053.3):c.957G>C (p.E319D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52570720C>G" "" "VUS" "" "0000548545" "0" "30" "12" "52960836" "52960836" "subst" "0.0205095" "01804" "KRT74_000010" "g.52960836T>C" "" "" "" "KRT74(NM_175053.3):c.1507A>G (p.(Thr503Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52567052T>C" "" "likely benign" "" "0000548546" "0" "50" "12" "52962010" "52962010" "subst" "0" "01943" "KRT74_000011" "g.52962010A>G" "" "" "" "KRT74(NM_175053.3):c.1298T>C (p.L433P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52568226A>G" "" "VUS" "" "0000548549" "0" "30" "12" "52965216" "52965216" "subst" "0.000658007" "01804" "KRT74_000014" "g.52965216A>T" "" "" "" "KRT74(NM_175053.3):c.770T>A (p.(Val257Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52571432A>T" "" "likely benign" "" "0000548550" "0" "30" "12" "52966249" "52966249" "subst" "0.037626" "01804" "KRT74_000015" "g.52966249T>A" "" "" "" "KRT74(NM_175053.3):c.674A>T (p.(Asp225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52572465T>A" "" "likely benign" "" "0000548551" "0" "30" "12" "52966413" "52966413" "subst" "0.00019898" "01943" "KRT74_000016" "g.52966413G>A" "" "" "" "KRT74(NM_175053.3):c.510C>T (p.T170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52572629G>A" "" "likely benign" "" "0000548552" "0" "50" "12" "52967208" "52967208" "subst" "0" "01804" "KRT74_000017" "g.52967208G>T" "" "" "" "KRT74(NM_175053.3):c.354C>A (p.(Asn118Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52573424G>T" "" "VUS" "" "0000679587" "0" "30" "12" "52967264" "52967264" "subst" "0.00530774" "01804" "KRT74_000019" "g.52967264C>T" "" "" "" "KRT74(NM_175053.3):c.298G>A (p.(Gly100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691377" "0" "50" "12" "52965240" "52965240" "subst" "0.00123556" "01943" "KRT74_000020" "g.52965240T>C" "" "" "" "KRT74(NM_175053.3):c.748-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863051" "0" "30" "12" "52960917" "52960917" "subst" "0.00125463" "01943" "KRT74_000021" "g.52960917G>A" "" "" "" "KRT74(NM_175053.3):c.1426C>T (p.P476S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863052" "0" "50" "12" "52962050" "52962050" "subst" "0.0039513" "01943" "KRT74_000022" "g.52962050G>A" "" "" "" "KRT74(NM_175053.3):c.1258C>T (p.R420W), KRT74(NM_175053.4):c.1258C>T (p.R420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863053" "0" "50" "12" "52963643" "52963643" "subst" "0.000101529" "01943" "KRT74_000023" "g.52963643C>T" "" "" "" "KRT74(NM_175053.3):c.1134G>A (p.Q378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966980" "0" "30" "12" "52962050" "52962050" "subst" "0.0039513" "02325" "KRT74_000022" "g.52962050G>A" "" "" "" "KRT74(NM_175053.3):c.1258C>T (p.R420W), KRT74(NM_175053.4):c.1258C>T (p.R420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980361" "0" "50" "12" "52960757" "52960757" "subst" "0" "01804" "KRT74_000024" "g.52960757C>T" "" "" "" "KRT74(NM_175053.4):c.1586G>A (p.(Arg529His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980362" "0" "30" "12" "52963660" "52963660" "subst" "0.00062134" "01804" "KRT74_000025" "g.52963660C>G" "" "" "" "KRT74(NM_175053.4):c.1117G>C (p.(Gly373Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000211" "0" "50" "12" "52962039" "52962048" "del" "0" "01804" "KRT74_000026" "g.52962039_52962048del" "" "" "" "KRT74(NM_175053.3):c.1262_1271delTGCTGCGCGA (p.(Met421fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000212" "0" "50" "12" "52965168" "52965168" "subst" "0" "01804" "KRT74_000027" "g.52965168T>G" "" "" "" "KRT74(NM_175053.3):c.818A>C (p.(Lys273Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000213" "0" "30" "12" "52966327" "52966327" "subst" "4.06068E-5" "01804" "KRT74_000028" "g.52966327C>T" "" "" "" "KRT74(NM_175053.3):c.596G>A (p.(Arg199Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000214" "0" "50" "12" "52967098" "52967098" "subst" "0" "01804" "KRT74_000029" "g.52967098A>G" "" "" "" "KRT74(NM_175053.3):c.464T>C (p.(Ile155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026209" "0" "50" "12" "52963672" "52963672" "subst" "1.62441E-5" "02325" "KRT74_000030" "g.52963672G>A" "" "" "" "KRT74(NM_175053.4):c.1105C>T (p.R369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039334" "0" "50" "12" "52962049" "52962049" "subst" "5.68533E-5" "01804" "KRT74_000031" "g.52962049C>T" "" "" "" "KRT74(NM_175053.4):c.1259G>A (p.(Arg420Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039335" "0" "50" "12" "52966328" "52966328" "subst" "2.03039E-5" "01804" "KRT74_000032" "g.52966328G>A" "" "" "" "KRT74(NM_175053.4):c.595C>T (p.(Arg199Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054353" "0" "30" "12" "52960776" "52960776" "subst" "0" "01804" "KRT74_000033" "g.52960776G>A" "" "" "" "KRT74(NM_175053.4):c.1567C>T (p.(Pro523Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KRT74 ## Count = 31 "{{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}}" "0000084900" "00010805" "90" "444" "0" "444" "0" "c.444C>G" "r.(?)" "p.(Asn148Lys)" "1" "0000248821" "00010805" "10" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Leu178Gln)" "" "0000249172" "00010805" "10" "471" "11" "471" "11" "c.471+11T>C" "r.(=)" "p.(=)" "" "0000281934" "00010805" "10" "693" "0" "693" "0" "c.693A>G" "r.(?)" "p.(Glu231=)" "" "0000281935" "00010805" "10" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Thr238=)" "" "0000281936" "00010805" "10" "747" "6" "747" "6" "c.747+6A>G" "r.(=)" "p.(=)" "" "0000281937" "00010805" "10" "813" "0" "813" "0" "c.813A>C" "r.(?)" "p.(Glu271Asp)" "" "0000290572" "00010805" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Cys)" "" "0000290573" "00010805" "50" "957" "0" "957" "0" "c.957G>C" "r.(?)" "p.(Glu319Asp)" "" "0000548545" "00010805" "30" "1507" "0" "1507" "0" "c.1507A>G" "r.(?)" "p.(Thr503Ala)" "" "0000548546" "00010805" "50" "1298" "0" "1298" "0" "c.1298T>C" "r.(?)" "p.(Leu433Pro)" "" "0000548549" "00010805" "30" "770" "0" "770" "0" "c.770T>A" "r.(?)" "p.(Val257Asp)" "" "0000548550" "00010805" "30" "674" "0" "674" "0" "c.674A>T" "r.(?)" "p.(Asp225Val)" "" "0000548551" "00010805" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Thr170=)" "" "0000548552" "00010805" "50" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(Asn118Lys)" "" "0000679587" "00010805" "30" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Arg)" "" "0000691377" "00010805" "50" "748" "-2" "748" "-2" "c.748-2A>G" "r.spl?" "p.?" "" "0000863051" "00010805" "30" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Pro476Ser)" "" "0000863052" "00010805" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Trp)" "" "0000863053" "00010805" "50" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Gln378=)" "" "0000966980" "00010805" "30" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Trp)" "" "0000980361" "00010805" "50" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529His)" "" "0000980362" "00010805" "30" "1117" "0" "1117" "0" "c.1117G>C" "r.(?)" "p.(Gly373Arg)" "" "0001000211" "00010805" "50" "1262" "0" "1271" "0" "c.1262_1271del" "r.(?)" "p.(Met421Serfs*6)" "" "0001000212" "00010805" "50" "818" "0" "818" "0" "c.818A>C" "r.(?)" "p.(Lys273Thr)" "" "0001000213" "00010805" "30" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199Gln)" "" "0001000214" "00010805" "50" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" "" "0001026209" "00010805" "50" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0001039334" "00010805" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420Gln)" "" "0001039335" "00010805" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Trp)" "" "0001054353" "00010805" "30" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Pro523Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000054879" "0000084900"