### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT75) # 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}}" "KRT75" "keratin 75" "12" "q13" "unknown" "NG_008403.1" "UD_132085333937" "" "https://www.LOVD.nl/KRT75" "" "1" "24431" "9119" "609025" "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/KRT75_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-27 14:27:25" "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}}" "00010806" "KRT75" "keratin 75" "001" "NM_004693.2" "" "NP_004684.2" "" "" "" "-22" "2103" "1656" "52828110" "52817854" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "03121" "PFB" "pseudofolliculitis barbae (PFB)" "" "612318" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-05-27 14:26:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KRT75" "03121" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00164351" "" "" "" "1" "" "00719" "Jansen, submitted" "" "F" "" "" "" "0" "" "" "" "Jansen et al. Patient 13" "00443919" "" "" "" "3" "" "00006" "{PMID:Winter 2004:15086549}" "3-generation family, 3 affected (3M)" "M" "" "Germany" "" "0" "" "" "" "FamPatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00164351" "00139" "00443919" "03121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 03121 ## Count = 2 "{{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}}" "0000129456" "00139" "00164351" "00719" "Isolated (sporadic)" "08y06m" "hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000333182" "03121" "00443919" "00006" "Familial, autosomal dominant" "" "see paper; ..., distinctly wavy scalp hairs, relatively severe pseudofolliculitis barbae (neck, submental region, cheek); hairs principally on undersurface chin/neck, frequently completely buried in spiral-like manner within pustules, occasionally reached 1 cm length" "" "" "" "" "" "" "" "PFB" "pseudofolliculitis barbae" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165218" "00164351" "1" "00719" "00719" "2018-05-14 20:53:11" "" "" "SEQ-NG" "DNA" "" "" "0000445415" "00443919" "1" "00006" "00006" "2023-12-06 21:27:37" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000445415" "KRT75" ## 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 = 4 "{{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}}" "0000368866" "0" "50" "12" "52824465" "52824465" "subst" "1.62423E-5" "00719" "KRT75_000003" "g.52824465C>A" "" "" "" "" "Maternally inherited" "Germline" "" "" "0" "" "" "g.52430681C>A" "" "VUS" "" "0000952414" "11" "90" "12" "52827608" "52827608" "subst" "0.125097" "00006" "KRT75_000001" "g.52827608C>T" "" "{PMID:Winter 2004:15086549}" "" "G>A Ala12Thr" "" "Germline" "yes" "" "0" "" "" "g.52433824C>T" "" "pathogenic" "" "0001039325" "0" "50" "12" "52822506" "52822506" "subst" "0.000186801" "01804" "KRT75_000005" "g.52822506C>T" "" "" "" "KRT75(NM_004693.3):c.1057G>A (p.(Ala353Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039326" "0" "50" "12" "52825801" "52825801" "subst" "5.27919E-5" "01804" "KRT75_000006" "g.52825801C>G" "" "" "" "KRT75(NM_004693.3):c.763G>C (p.(Ala255Pro))" "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 KRT75 ## Count = 4 "{{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}}" "0000368866" "00010806" "50" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Val299Phe)" "" "0000952414" "00010806" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Ala161Thr)" "" "0001039325" "00010806" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Ala353Thr)" "" "0001039326" "00010806" "50" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.(Ala255Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000165218" "0000368866" "0000445415" "0000952414"