### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCHH) # 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}}" "TCHH" "trichohyalin" "1" "q21-q23" "unknown" "NG_052960.1" "UD_132319166359" "" "https://www.LOVD.nl/TCHH" "" "1" "11791" "7062" "190370" "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/TCHH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-02 15:56:50" "00000" "2026-01-13 13:39:03" ## 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}}" "00024265" "TCHH" "trichohyalin" "001" "NM_007113.3" "" "NP_009044.2" "" "" "" "-95" "6900" "5832" "152087930" "152078793" "00006" "2017-06-02 15:57:59" "" "" ## 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}}" "05273" "UHS" "hair, uncombable syndrome (UHS)" "" "" "hair" "" "" "00006" "2017-06-02 10:12:29" "00006" "2021-12-10 21:51:32" "05276" "UHS3" "hair, uncombable syndrome, type 3 (UHS-3)" "AR" "617252" "hair" "" "" "00006" "2017-06-02 10:15:08" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TCHH" "05273" "TCHH" "05276" ## 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}}" "00104881" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00104881" "05273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05273, 05276 ## Count = 0 ## 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}}" "0000105355" "00104881" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000105355" "TCHH" ## 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 = 20 "{{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}}" "0000170708" "3" "90" "1" "152084702" "152084702" "subst" "0.000323127" "00006" "TCHH_000001" "g.152084702G>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs201930497" "0" "" "" "g.152112226G>A" "" "pathogenic" "" "0000316365" "0" "30" "1" "152084423" "152084423" "subst" "0.000137184" "01943" "TCHH_000003" "g.152084423G>C" "" "" "" "TCHH(NM_007113.3):c.1270C>G (p.Q424E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152111947G>C" "" "likely benign" "" "0000316366" "0" "50" "1" "152084420" "152084420" "subst" "3.44101E-5" "01943" "TCHH_000002" "g.152084420G>C" "" "" "" "TCHH(NM_007113.3):c.1273C>G (p.L425V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152111944G>C" "" "VUS" "" "0000716807" "0" "30" "1" "152086564" "152086564" "dup" "0" "01943" "TCHH_000006" "g.152086564dup" "" "" "" "TCHH(NM_007113.3):c.1dupA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848299" "0" "30" "1" "152086564" "152086564" "del" "0" "02325" "TCHH_000007" "g.152086564del" "" "" "" "TCHH(NM_007113.4):c.1delA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973298" "0" "30" "1" "152084459" "152084459" "subst" "0.000338388" "01804" "TCHH_000008" "g.152084459G>C" "" "" "" "TCHH(NM_007113.4):c.1234C>G (p.(Gln412Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031259" "0" "50" "1" "152081825" "152081825" "subst" "0.000317078" "01804" "TCHH_000009" "g.152081825C>G" "" "" "" "TCHH(NM_007113.4):c.3868G>C (p.(Asp1290His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031260" "0" "50" "1" "152082257" "152082257" "subst" "0.0011167" "01804" "TCHH_000010" "g.152082257C>G" "" "" "" "TCHH(NM_007113.4):c.3436G>C (p.(Val1146Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031261" "0" "30" "1" "152082500" "152082500" "subst" "0.000289664" "01804" "TCHH_000011" "g.152082500C>T" "" "" "" "TCHH(NM_007113.4):c.3193G>A (p.(Gly1065Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031262" "0" "50" "1" "152084575" "152084575" "subst" "0" "01804" "TCHH_000012" "g.152084575C>T" "" "" "" "TCHH(NM_007113.4):c.1118G>A (p.(Arg373His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031263" "0" "50" "1" "152084651" "152084651" "subst" "0.000607471" "01804" "TCHH_000013" "g.152084651C>T" "" "" "" "TCHH(NM_007113.4):c.1042G>A (p.(Glu348Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031264" "0" "50" "1" "152084950" "152084950" "subst" "0.00017191" "01804" "TCHH_000014" "g.152084950T>C" "" "" "" "TCHH(NM_007113.4):c.743A>G (p.(Lys248Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050260" "0" "30" "1" "152082449" "152082449" "subst" "0" "01804" "TCHH_000015" "g.152082449T>C" "" "" "" "TCHH(NM_007113.4):c.3244A>G (p.(Lys1082Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050261" "0" "30" "1" "152082484" "152082484" "subst" "0.00497948" "01804" "TCHH_000016" "g.152082484G>T" "" "" "" "TCHH(NM_007113.4):c.3209C>A (p.(Thr1070Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050262" "0" "30" "1" "152084392" "152084392" "subst" "4.13668E-6" "01804" "TCHH_000017" "g.152084392T>C" "" "" "" "TCHH(NM_007113.4):c.1301A>G (p.(His434Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050263" "0" "30" "1" "152084563" "152084563" "subst" "0" "01804" "TCHH_000018" "g.152084563A>T" "" "" "" "TCHH(NM_007113.4):c.1130T>A (p.(Leu377Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050264" "0" "50" "1" "152084564" "152084564" "subst" "0" "01804" "TCHH_000019" "g.152084564G>C" "" "" "" "TCHH(NM_007113.4):c.1129C>G (p.(Leu377Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050265" "0" "50" "1" "152084567" "152084567" "subst" "0" "01804" "TCHH_000020" "g.152084567G>C" "" "" "" "TCHH(NM_007113.4):c.1126C>G (p.(Gln376Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050266" "0" "30" "1" "152085253" "152085253" "subst" "0.000552302" "01804" "TCHH_000021" "g.152085253T>G" "" "" "" "TCHH(NM_007113.4):c.440A>C (p.(Glu147Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062772" "0" "30" "1" "152084741" "152084761" "dup" "0" "03779" "TCHH_000022" "g.152084741_152084761dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 TCHH ## Count = 20 "{{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}}" "0000170708" "00024265" "90" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "3" "0000316365" "00024265" "30" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Gln424Glu)" "" "0000316366" "00024265" "50" "1273" "0" "1273" "0" "c.1273C>G" "r.(?)" "p.(Leu425Val)" "" "0000716807" "00024265" "30" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "0000848299" "00024265" "30" "1" "0" "1" "0" "c.1del" "r.(?)" "p.(Met1?)" "" "0000973298" "00024265" "30" "1234" "0" "1234" "0" "c.1234C>G" "r.(?)" "p.(Gln412Glu)" "" "0001031259" "00024265" "50" "3868" "0" "3868" "0" "c.3868G>C" "r.(?)" "p.(Asp1290His)" "" "0001031260" "00024265" "50" "3436" "0" "3436" "0" "c.3436G>C" "r.(?)" "p.(Val1146Leu)" "" "0001031261" "00024265" "30" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Gly1065Arg)" "" "0001031262" "00024265" "50" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Arg373His)" "" "0001031263" "00024265" "50" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Glu348Lys)" "" "0001031264" "00024265" "50" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Lys248Arg)" "" "0001050260" "00024265" "30" "3244" "0" "3244" "0" "c.3244A>G" "r.(?)" "p.(Lys1082Glu)" "" "0001050261" "00024265" "30" "3209" "0" "3209" "0" "c.3209C>A" "r.(?)" "p.(Thr1070Lys)" "" "0001050262" "00024265" "30" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(His434Arg)" "" "0001050263" "00024265" "30" "1130" "0" "1130" "0" "c.1130T>A" "r.(?)" "p.(Leu377Gln)" "" "0001050264" "00024265" "50" "1129" "0" "1129" "0" "c.1129C>G" "r.(?)" "p.(Leu377Val)" "" "0001050265" "00024265" "50" "1126" "0" "1126" "0" "c.1126C>G" "r.(?)" "p.(Gln376Glu)" "" "0001050266" "00024265" "30" "440" "0" "440" "0" "c.440A>C" "r.(?)" "p.(Glu147Ala)" "" "0001062772" "00024265" "30" "958" "0" "978" "0" "c.958_978dup" "r.(?)" "p.(Glu320_Glu326dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000105355" "0000170708"