### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT4) # 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}}" "KRT4" "keratin 4" "12" "q13.13" "unknown" "NC_000012.11" "UD_132084723147" "" "https://www.LOVD.nl/KRT24" "" "1" "6441" "3851" "123940" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KRT4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-06 18:34:32" "00006" "2023-12-06 18:56:37" ## 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}}" "00010761" "KRT4" "keratin 4" "001" "NM_002272.3" "" "NP_002263.3" "" "" "" "-58" "2089" "1563" "53207900" "53200327" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01608" "WSN1" "White sponge nevus 1" "AD" "193900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KRT4" "01608" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00290755" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00392909" "" "" "" "3" "" "00006" "{PMID:Terrinoni 2000:10652003}" "2-generation family, affected mother/daughter/son" "F;M" "" "Italy" "" "0" "" "" "" "family" "00392916" "" "" "" "2" "" "00006" "{PMID:Chao 2003:12828738}" "2-generation family, affected father/son" "M" "" "Taiwan" "" "0" "" "" "" "family" "00392917" "" "" "" "4" "" "00006" "{PMID:Rugg 1995:7493030}" "2-generation family, 4 affected (3F, M)," "F;M" "" "Scotland" "" "0" "" "" "" "Fam1" "00392918" "" "" "" "4" "" "00006" "{PMID:Rugg 1995:7493030}" "2-generation family, affected father, twin daughters and son (2F, 2M)" "F;M" "" "Scotland" "" "0" "" "" "" "Fam2" "00393053" "" "" "" "4" "" "00006" "{PMID:Zhang 2009:18992023}" "3-generation family, 4 affected (4F)" "F" "" "China" "" "0" "" "" "" "FamPatII1" "00401208" "" "" "" "1" "" "00006" "{PMID:Naqvi 2022:35089071}" "5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00443881" "" "" "" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 1 affected brother, unaffected heterozygous parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamFPatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00290755" "00198" "00392909" "01608" "00392916" "01608" "00392917" "01608" "00392918" "01608" "00393053" "01608" "00401208" "05153" "00443881" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01608, 05153, 06906 ## Count = 7 "{{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}}" "0000286149" "01608" "00392909" "00006" "Familial, autosomal dominant" "" "see paper; ..., white asymptomatic oral plaques" "" "" "" "" "" "" "" "" "WSN1" "white sponge nevus" "" "0000286156" "01608" "00392916" "00006" "Familial, autosomal dominant" "" "see paper; ..., diffuse irregular whitish plaques involving buccal and gingival mucosae and tongue, affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization suprabasal keratinocytes" "" "" "" "" "" "" "" "" "WSN1" "white sponge naevus" "" "0000286157" "01608" "00392917" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "WSN1" "white sponge nevus" "" "0000286159" "01608" "00392918" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "WSN1" "white sponge nevus" "" "0000286294" "01608" "00393053" "00006" "Familial, autosomal dominant" "" "see paper; ..., asymptomatic oral plaques" "" "" "" "" "" "" "" "" "WSN1" "white sponge nevus" "" "0000294251" "05153" "00401208" "00006" "Familial, autosomal recessive" "" "see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000333158" "06906" "00443881" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291923" "00290755" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000394156" "00392909" "1" "00006" "00006" "2021-11-25 10:08:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394163" "00392916" "1" "00006" "00006" "2021-11-25 11:00:41" "" "" "SEQ" "DNA" "" "" "0000394164" "00392917" "1" "00006" "00006" "2021-11-25 11:13:13" "00006" "2021-11-25 11:17:39" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394166" "00392918" "1" "00006" "00006" "2021-11-25 11:19:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394301" "00393053" "1" "00006" "00006" "2021-11-25 17:35:40" "" "" "SEQ" "DNA" "" "" "0000402452" "00401208" "1" "00006" "00006" "2022-01-29 16:26:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445378" "00443881" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000394156" "KRT4" "0000394163" "KRT4" "0000394164" "KRT13" "0000394164" "KRT4" "0000394166" "KRT13" "0000394166" "KRT4" "0000394301" "KRT4" ## 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 = 19 "{{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}}" "0000254443" "0" "30" "12" "53207615" "53207615" "subst" "0" "01943" "KRT4_000006" "g.53207615A>C" "" "" "" "KRT4(NM_002272.3):c.228T>G (p.G76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52813831A>C" "" "likely benign" "" "0000281896" "0" "10" "12" "53204614" "53204614" "subst" "0.834527" "02325" "KRT4_000003" "g.53204614C>T" "" "" "" "KRT4(NM_002272.4):c.678-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52810830C>T" "" "benign" "" "0000290565" "0" "30" "12" "53207637" "53207637" "subst" "0" "01943" "KRT4_000007" "g.53207637C>A" "" "" "" "KRT4(NM_002272.3):c.206G>T (p.R69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52813853C>A" "" "likely benign" "" "0000290566" "0" "10" "12" "53207556" "53207556" "subst" "0" "01943" "KRT4_000005" "g.53207556T>G" "" "" "" "KRT4(NM_002272.3):c.287A>C (p.K96T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52813772T>G" "" "benign" "" "0000290567" "0" "30" "12" "53205708" "53205708" "subst" "0" "01943" "KRT4_000004" "g.53205708G>T" "" "" "" "KRT4(NM_002272.3):c.516C>A (p.L172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52811924G>T" "" "likely benign" "" "0000290568" "0" "50" "12" "53203235" "53203235" "subst" "0.000324915" "01943" "KRT4_000002" "g.53203235C>T" "" "" "" "KRT4(NM_002272.3):c.766G>A (p.V256M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52809451C>T" "" "VUS" "" "0000290569" "0" "30" "12" "53202599" "53202599" "subst" "0.00299717" "01943" "KRT4_000001" "g.53202599C>T" "" "" "" "KRT4(NM_002272.3):c.870G>A (p.T290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52808815C>T" "" "likely benign" "" "0000548582" "0" "10" "12" "53201413" "53201413" "subst" "0.836827" "02325" "KRT4_000008" "g.53201413T>C" "" "" "" "KRT4(NM_002272.4):c.1346+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52807629T>C" "" "benign" "" "0000648612" "1" "30" "12" "53207439" "53207439" "subst" "0.00400422" "03575" "KRT4_000009" "g.53207439G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs17119475}" "Germline" "" "rs17119475" "0" "" "" "g.52813655G>A" "" "likely benign" "" "0000805835" "0" "50" "12" "53202194" "53202194" "subst" "0" "01943" "KRT4_000010" "g.53202194G>A" "" "" "" "KRT4(NM_002272.3):c.1009C>T (p.L337F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805836" "0" "30" "12" "53202560" "53202560" "subst" "0" "01943" "KRT4_000011" "g.53202560G>A" "" "" "" "KRT4(NM_002272.3):c.909C>T (p.D303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825067" "0" "70" "12" "53207425" "53207427" "dup" "0" "00006" "KRT4_000012" "g.53207425_53207427dup" "" "{PMID:Terrinoni 2000:10652003}" "" "458_459insACA" "" "Germline" "yes" "" "0" "" "" "g.52813641_52813643dup" "" "benign (!)" "" "0000825075" "11" "70" "12" "53201471" "53201471" "subst" "0" "00006" "KRT4_000013" "g.53201471C>T" "" "{PMID:Chao 2003:12828738}" "" "1345G>A (E449K)" "" "Germline" "yes" "rs62642055" "0" "" "" "g.52807687C>T" "" "pathogenic (dominant)" "" "0000825076" "21" "90" "12" "53207409" "53207411" "del" "0" "00006" "KRT4_000014" "g.53207409_53207411del" "" "{PMID:Rugg 1995:7493030}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52813625_52813627del" "" "pathogenic (dominant)" "" "0000825077" "11" "90" "12" "53207409" "53207411" "del" "0" "00006" "KRT4_000014" "g.53207409_53207411del" "" "{PMID:Rugg 1995:7493030}" "" "657_659delCAA" "" "Germline" "yes" "" "0" "" "" "g.52813625_52813627del" "" "pathogenic (dominant)" "" "0000825214" "21" "90" "12" "53201438" "53201438" "subst" "8.12282E-6" "00006" "KRT4_000015" "g.53201438C>T" "" "{PMID:Zhang 2009:18992023}" "" "1829G>A (E520K)" "variant expression cloning shows cells with irregular appearance or short-spindled ship" "Germline" "yes" "" "0" "" "" "g.52807654C>T" "" "pathogenic (dominant)" "" "0000825215" "21" "30" "12" "53200584" "53200584" "subst" "0" "00006" "KRT4_000016" "g.53200584T>C" "" "{PMID:Zhang 2009:18992023}" "" "2324A>G" "" "Germline" "" "" "0" "" "" "g.52806800T>C" "" "likely benign" "" "0000836620" "3" "30" "12" "52813818" "52813819" "ins" "0" "00006" "KRT4_000017" "g.52813818_52813819insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC" "" "{PMID:Naqvi 2022:35089071}" "" "" "" "Germline" "" "rs11267392" "0" "" "" "g.53207602_53207603insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC" "" "likely benign" "" "0000952369" "3" "50" "12" "53207645" "53207646" "ins" "0" "00006" "KRT4_000018" "g.53207645_53207646insCCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGGCA" "" "{PMID:Chatron 2020:32282878}" "" "ENST00000458244:c.199_200insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG" "" "Germline" "" "" "0" "" "" "g.52813861_52813862insCCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGGCA" "" "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 KRT4 ## Count = 19 "{{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}}" "0000254443" "00010761" "30" "228" "0" "228" "0" "c.228T>G" "r.(?)" "p.(Gly76=)" "" "0000281896" "00010761" "10" "678" "-14" "678" "-14" "c.678-14G>A" "r.(=)" "p.(=)" "" "0000290565" "00010761" "30" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Arg69Leu)" "" "0000290566" "00010761" "10" "287" "0" "287" "0" "c.287A>C" "r.(?)" "p.(Lys96Thr)" "" "0000290567" "00010761" "30" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Leu172=)" "" "0000290568" "00010761" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Val256Met)" "" "0000290569" "00010761" "30" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Thr290=)" "" "0000548582" "00010761" "10" "1346" "15" "1346" "15" "c.1346+15A>G" "r.(=)" "p.(=)" "" "0000648612" "00010761" "30" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Met)" "" "0000805835" "00010761" "50" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Leu337Phe)" "" "0000805836" "00010761" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Asp303=)" "" "0000825067" "00010761" "70" "417" "0" "419" "0" "c.417_419dup" "r.417_419dup" "p.Gln140dup" "" "0000825075" "00010761" "70" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Glu435Lys)" "" "0000825076" "00010761" "90" "438" "0" "440" "0" "c.438_440del" "r.438_440del" "p.Asn146del" "" "0000825077" "00010761" "90" "438" "0" "440" "0" "c.438_440del" "r.438_440del" "p.Asn146del" "" "0000825214" "00010761" "90" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Glu446Lys)" "" "0000825215" "00010761" "30" "1832" "0" "1832" "0" "c.*269A>G" "r.(?)" "p.(=)" "" "0000836620" "00010761" "30" "259" "0" "260" "0" "c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG" "r.(?)" "p.(Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)" "" "0000952369" "00010761" "50" "197" "0" "198" "0" "c.197_198insTGCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGG" "r.(?)" "p.(Ala66_Gly67insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000291923" "0000648612" "0000394156" "0000825067" "0000394163" "0000825075" "0000394164" "0000825076" "0000394166" "0000825077" "0000394301" "0000825214" "0000394301" "0000825215" "0000402452" "0000836620" "0000445378" "0000952369"