### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT13) # 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}}" "KRT13" "keratin 13" "17" "q21-q23" "unknown" "NG_008406.1" "UD_132118243627" "" "http://www.LOVD.nl/KRT13" "" "1" "6415" "3860" "148065" "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/KRT13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-29 15:38:19" "00000" "2025-05-05 21:14:00" ## 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}}" "00010772" "KRT13" "transcript variant 1" "002" "NM_153490.2" "" "NP_705694.2" "" "" "" "-63" "1652" "1377" "39661865" "39657233" "" "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}}" "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" "04085" "WSN2" "white sponge nevus 2" "AD" "615785" "" "" "" "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}}" "KRT13" "04085" ## 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}}" "00074421" "" "" "" "9" "" "01684" "" "F82862" "-" "" "Netherlands" "" "0" "Pedigree" "" "Dutch" "" "00291700" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00443913" "" "" "" "1" "" "00006" "{PMID:Rugg 1999:10561721}" "2-generation family, 1 affected, unaffected non-carrier parents/daughter" "F" "" "Denmark" "" "0" "" "" "" "Fam1PatII1" "00443914" "" "" "" "8" "" "00006" "{PMID:Rugg 1999:10561721}" "4-generation family, 8 affected (2F, 6M)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2PatIII1" "00443915" "" "" "" "1" "" "00006" "{PMID:Richard 1995:7493031}" "4-generation family, 7 affected (4F, 3M)" "F;M" "no" "Italy" "" "0" "" "" "" "family" "00443916" "" "" "" "1" "" "00006" "{PMID:Shibuya 2003:14600690}" "2-generation family, 3 affected (mother/daughter/son)" "F;M" "no" "Japan" "" "0" "" "" "" "family" "00443917" "" "" "" "18" "" "00006" "{PMID:Terrinoni 2001:11379896}" "4-generation family, 18 affected (3F, 15M)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamPatIII1" "00443918" "" "" "" "1" "" "00006" "{PMID:Nishizawa 2008:18616775}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00074421" "01608" "00291700" "00198" "00443913" "04085" "00443914" "04085" "00443915" "04085" "00443916" "04085" "00443917" "04085" "00443918" "04085" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01608, 04085 ## 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}}" "0000054239" "01608" "00074421" "01684" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333176" "04085" "00443913" "00006" "Isolated (sporadic)" "" "see paper; ..., 11y-white spongy plaques on herbuccal mucosa, 18y-white spongy plaques vulva and vaginal mucosa; lesions show typical epidermolytic hyperkeratosis with large, spongy cells with intracellular oedema starting at prickle celllayer" "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" "0000333177" "04085" "00443914" "00006" "Familial, autosomal dominant" "" "see paper; ..., childhood white spongy lesions buccal mucosa and dorsum/lateral margins tongue" "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" "0000333178" "04085" "00443915" "00006" "Familial, autosomal dominant" "" "see paper; ...," "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" "0000333179" "04085" "00443916" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" "0000333180" "04085" "00443917" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" "0000333181" "04085" "00443918" "00006" "Isolated (sporadic)" "48y" "see paper; ..., oral white sponge naevus" "" "" "" "" "" "" "" "" "WSN2" "white sponge nevus" "" ## 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}}" "0000074582" "00074421" "1" "01684" "01684" "2016-06-29 14:46:38" "00006" "2016-06-29 15:45:17" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000292868" "00291700" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445409" "00443913" "1" "00006" "00006" "2023-12-06 19:07:28" "" "" "SEQ" "DNA" "" "" "0000445410" "00443914" "1" "00006" "00006" "2023-12-06 19:14:29" "" "" "SEQ" "DNA" "" "" "0000445411" "00443915" "1" "00006" "00006" "2023-12-06 19:29:36" "" "" "SEQ" "DNA" "" "" "0000445412" "00443916" "1" "00006" "00006" "2023-12-06 19:39:22" "" "" "SEQ" "DNA" "" "" "0000445413" "00443917" "1" "00006" "00006" "2023-12-06 19:47:27" "" "" "SEQ" "DNA" "" "" "0000445414" "00443918" "1" "00006" "00006" "2023-12-06 19:52:04" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000074582" "KRT13" "0000445409" "KRT13" "0000445410" "KRT13" "0000445411" "KRT13" "0000445412" "KRT13" "0000445413" "KRT13" "0000445414" "KRT13" ## 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 = 23 "{{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}}" "0000118963" "0" "70" "17" "39658887" "39658918" "del" "0" "01684" "KRT13_000007" "g.39658887_39658918del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.41502635_41502666del" "" "likely pathogenic" "" "0000281867" "0" "10" "17" "39661689" "39661689" "subst" "0.929438" "02325" "KRT13_000017" "g.39661689G>A" "" "" "" "KRT13(NM_153490.3):c.114C>T (p.S38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41505437G>A" "" "benign" "" "0000281868" "0" "10" "17" "39659913" "39659913" "subst" "0.864341" "02325" "KRT13_000016" "g.39659913G>A" "" "" "" "KRT13(NM_153490.3):c.560C>T (p.A187V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41503661G>A" "" "benign" "" "0000281869" "0" "10" "17" "39659529" "39659529" "subst" "0.920551" "02325" "KRT13_000015" "g.39659529T>C" "" "" "" "KRT13(NM_153490.3):c.735+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41503277T>C" "" "benign" "" "0000281870" "0" "10" "17" "39659194" "39659194" "subst" "0.973268" "02325" "KRT13_000020" "g.39659194T>C" "" "" "" "KRT13(NM_153490.3):c.892A>G (p.T298A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41502942T>C" "" "benign" "" "0000281871" "0" "10" "17" "39659183" "39659183" "subst" "0.914127" "02325" "KRT13_000019" "g.39659183G>A" "" "" "" "KRT13(NM_153490.3):c.897+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41502931G>A" "" "benign" "" "0000290556" "0" "50" "17" "39658653" "39658653" "subst" "0.000170593" "01943" "KRT13_000018" "g.39658653C>A" "" "" "" "KRT13(NM_002274.4):c.1217G>T (p.R406L), KRT13(NM_153490.2):c.1217G>T (p.R406L), KRT13(NM_153490.3):c.1217G>T (p.R406L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41502401C>A" "" "VUS" "" "0000290557" "0" "50" "17" "39661723" "39661723" "subst" "0.000195005" "01943" "KRT13_000008" "g.39661723C>T" "" "" "" "KRT13(NM_153490.2):c.80G>A (p.R27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41505471C>T" "" "VUS" "" "0000561313" "0" "50" "17" "39658653" "39658653" "subst" "0.000170593" "02325" "KRT13_000018" "g.39658653C>A" "" "" "" "KRT13(NM_002274.4):c.1217G>T (p.R406L), KRT13(NM_153490.2):c.1217G>T (p.R406L), KRT13(NM_153490.3):c.1217G>T (p.R406L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41502401C>A" "" "VUS" "" "0000649557" "1" "30" "17" "39658953" "39658953" "subst" "0.000321583" "03575" "KRT13_000009" "g.39658953A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139318123}" "Germline" "" "rs139318123" "0" "" "" "g.41502701A>G" "" "likely benign" "" "0000692328" "0" "30" "17" "39658737" "39658737" "subst" "0.00010162" "02325" "KRT13_000010" "g.39658737C>T" "" "" "" "KRT13(NM_002274.4):c.1133G>A (p.R378H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854864" "0" "50" "17" "39661700" "39661700" "subst" "2.43986E-5" "02325" "KRT13_000012" "g.39661700G>A" "" "" "" "KRT13(NM_002274.4):c.103C>T (p.R35W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865197" "0" "50" "17" "39658639" "39658639" "subst" "0" "02325" "KRT13_000011" "g.39658639C>T" "" "" "" "KRT13(NM_002274.4):c.1231G>A (p.G411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893518" "0" "30" "17" "39659220" "39659220" "subst" "0.000373811" "02325" "KRT13_000013" "g.39659220C>T" "" "" "" "KRT13(NM_002274.4):c.866G>A (p.R289H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930746" "0" "30" "17" "39659320" "39659320" "subst" "0.000556354" "02325" "KRT13_000014" "g.39659320C>T" "" "" "" "KRT13(NM_002274.4):c.766G>A (p.G256S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952408" "0" "90" "17" "39661459" "39661459" "subst" "0" "00006" "KRT13_000005" "g.39661459A>G" "" "{PMID:Rugg 1999:10561721}" "" "" "" "De novo" "" "" "0" "" "" "g.41505207A>G" "" "pathogenic (dominant)" "" "0000952409" "11" "90" "17" "39661480" "39661480" "subst" "0" "00006" "KRT13_000001" "g.39661480A>G" "" "{PMID:Rugg 1999:10561721}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41505228A>G" "" "pathogenic (dominant)" "" "0000952410" "21" "90" "17" "39661447" "39661447" "subst" "0" "00006" "KRT13_000006" "g.39661447A>G" "" "{PMID:Richard 1995:7493031}" "" "T>C Leu15Pro" "" "Germline" "yes" "" "0" "" "" "g.41505195A>G" "" "pathogenic (dominant)" "" "0000952411" "21" "90" "17" "39661471" "39661471" "subst" "0" "00006" "KRT13_000002" "g.39661471A>G" "" "{PMID:Shibuya 2003:14600690}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41505219A>G" "" "pathogenic (dominant)" "" "0000952412" "21" "90" "17" "39661468" "39661468" "subst" "0" "00006" "KRT13_000003" "g.39661468T>C" "" "{PMID:Terrinoni 2001:11379896}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41505216T>C" "" "pathogenic (dominant)" "" "0000952413" "0" "90" "17" "39661462" "39661462" "subst" "8.1211E-6" "00006" "KRT13_000004" "g.39661462C>T" "" "{PMID:Nishizawa 2008:18616775}" "" "" "" "De novo" "" "" "0" "" "" "g.41505210C>T" "" "pathogenic (dominant)" "" "0001003204" "0" "50" "17" "39661585" "39661596" "del" "0" "02325" "KRT13_000021" "g.39661585_39661596del" "" "" "" "KRT13(NM_002274.4):c.217_228delTATGGAGGTGGC (p.Y73_G76del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041821" "0" "50" "17" "39659272" "39659272" "subst" "2.43653E-5" "02325" "KRT13_000022" "g.39659272G>A" "" "" "" "KRT13(NM_002274.4):c.814C>T (p.R272C)" "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 KRT13 ## Count = 23 "{{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}}" "0000118963" "00010772" "70" "1023" "23" "1024" "-39" "c.1023+23_1024-39del" "r.1024_1077del" "p.Lys342_Gln359del" "5i" "0000281867" "00010772" "10" "114" "0" "114" "0" "c.114=" "r.(=)" "p.(Ser38=)" "" "0000281868" "00010772" "10" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ala187Val)" "" "0000281869" "00010772" "10" "735" "10" "735" "10" "c.735+10A>G" "r.(=)" "p.(=)" "" "0000281870" "00010772" "10" "892" "0" "892" "0" "c.892=" "r.(=)" "p.(Ala298=)" "" "0000281871" "00010772" "10" "897" "6" "897" "6" "c.897+6C>T" "r.(=)" "p.(=)" "" "0000290556" "00010772" "50" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Arg406Leu)" "" "0000290557" "00010772" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000561313" "00010772" "50" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Arg406Leu)" "" "0000649557" "00010772" "30" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Ser337Pro)" "" "0000692328" "00010772" "30" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378His)" "" "0000854864" "00010772" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Trp)" "" "0000865197" "00010772" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "" "0000893518" "00010772" "30" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Arg289His)" "" "0000930746" "00010772" "30" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Gly256Ser)" "" "0000952408" "00010772" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Leu115Pro)" "" "0000952409" "00010772" "90" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Met108Thr)" "" "0000952410" "00010772" "90" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Leu119Pro)" "" "0000952411" "00010772" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Leu111Pro)" "" "0000952412" "00010772" "90" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Asn112Ser)" "" "0000952413" "00010772" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0001003204" "00010772" "50" "217" "0" "228" "0" "c.217_228del" "r.(?)" "p.(Tyr73_Gly76del)" "" "0001041821" "00010772" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000074582" "0000118963" "0000292868" "0000649557" "0000445409" "0000952408" "0000445410" "0000952409" "0000445411" "0000952410" "0000445412" "0000952411" "0000445413" "0000952412" "0000445414" "0000952413"