### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZDHHC15) # 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}}" "ZDHHC15" "zinc finger, DHHC-type containing 15" "X" "q13.3" "unknown" "NG_012974.1" "UD_132084535013" "" "https://www.LOVD.nl/ZDHHC15" "" "1" "20342" "158866" "300576" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ZDHHC15_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-05-11 17:07:14" "00000" "2024-04-19 20:27:30" ## 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}}" "00000990" "ZDHHC15" "transcript variant 1" "002" "NM_144969.2" "" "NP_659406.1" "" "" "" "-478" "5565" "1014" "74588262" "74743337" "00000" "2012-09-13 13:04:58" "" "" ## 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}}" "00830" "MRX91" "mental retardation, X-linked, type 91 (MRX91)" "XLD" "300577" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 17:05:29" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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}}" "ZDHHC15" "00830" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00830, 01157 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 27 "{{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}}" "0000007192" "20" "50" "X" "74598687" "74598687" "subst" "0" "00037" "ZDHHC15_000001" "g.74598687C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75378852C>T" "" "VUS" "" "0000007193" "20" "50" "X" "74598903" "74598903" "subst" "0" "00037" "ZDHHC15_000003" "g.74598903G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75379068G>A" "" "VUS" "" "0000007194" "20" "50" "X" "74743194" "74743194" "subst" "0" "00037" "ZDHHC15_000006" "g.74743194C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75523359C>G" "" "VUS" "" "0000009288" "20" "50" "X" "74598903" "74598903" "subst" "0" "00037" "ZDHHC15_000003" "g.74598903G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75379068G>A" "" "VUS" "" "0000015167" "20" "50" "X" "74598687" "74598687" "subst" "0" "00037" "ZDHHC15_000001" "g.74598687C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75378852C>T" "" "VUS" "" "0000315525" "0" "10" "X" "74641731" "74641731" "subst" "0.000472654" "02326" "ZDHHC15_000007" "g.74641731C>G" "" "" "" "ZDHHC15(NM_144969.2):c.831G>C (p.K277N), ZDHHC15(NM_144969.3):c.831G>C (p.K277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75421896C>G" "" "benign" "" "0000320120" "0" "50" "X" "74742807" "74742807" "subst" "0" "01943" "ZDHHC15_000013" "g.74742807C>G" "" "" "" "ZDHHC15(NM_144969.2):c.53G>C (p.R18P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522972C>G" "" "VUS" "" "0000320121" "0" "50" "X" "74644519" "74644519" "subst" "0" "01943" "ZDHHC15_000008" "g.74644519C>G" "" "" "" "ZDHHC15(NM_144969.2):c.704G>C (p.C235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75424684C>G" "" "VUS" "" "0000334684" "0" "50" "X" "74698837" "74698837" "dup" "0" "01804" "ZDHHC15_000010" "g.74698837dup" "" "" "" "ZDHHC15(NM_001146256.1):c.137-8dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479002dup" "" "VUS" "" "0000334686" "0" "30" "X" "74698837" "74698837" "del" "0" "01804" "ZDHHC15_000011" "g.74698837del" "" "" "" "ZDHHC15(NM_001146256.1):c.137-8delT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479002del" "" "likely benign" "" "0000334687" "0" "50" "X" "74742805" "74742805" "subst" "0" "01804" "ZDHHC15_000012" "g.74742805C>G" "" "" "" "ZDHHC15(NM_001146256.1):c.55G>C (p.(Val19Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522970C>G" "" "VUS" "" "0000341621" "0" "50" "X" "74742837" "74742837" "subst" "1.72668E-5" "02327" "ZDHHC15_000014" "g.74742837G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523002G>A" "" "VUS" "" "0000577467" "0" "30" "X" "74598997" "74598997" "subst" "0.00011778" "01943" "ZDHHC15_000015" "g.74598997G>A" "" "" "" "ZDHHC15(NM_144969.2):c.1004C>T (p.T335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75379162G>A" "" "likely benign" "" "0000577468" "0" "30" "X" "74649819" "74649819" "subst" "0.000114469" "01804" "ZDHHC15_000016" "g.74649819C>T" "" "" "" "ZDHHC15(NM_001146256.1):c.423-4G>A (p.?), ZDHHC15(NM_144969.2):c.450-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75429984C>T" "" "likely benign" "" "0000577469" "0" "30" "X" "74651370" "74651370" "del" "0" "01804" "ZDHHC15_000017" "g.74651370del" "" "" "" "ZDHHC15(NM_001146256.1):c.353-5delT (p.?), ZDHHC15(NM_144969.3):c.380-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75431535del" "" "likely benign" "" "0000577471" "0" "30" "X" "74670747" "74670747" "subst" "7.44295E-5" "01804" "ZDHHC15_000018" "g.74670747G>C" "" "" "" "ZDHHC15(NM_001146256.1):c.242C>G (p.(Ser81Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75450912G>C" "" "likely benign" "" "0000577472" "0" "50" "X" "74742807" "74742807" "subst" "0" "02327" "ZDHHC15_000019" "g.74742807C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522972C>T" "" "VUS" "" "0000577473" "0" "50" "X" "74742808" "74742808" "subst" "0" "01804" "ZDHHC15_000020" "g.74742808G>A" "" "" "" "ZDHHC15(NM_001146256.1):c.52C>T (p.(Arg18Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522973G>A" "" "VUS" "" "0000682640" "0" "30" "X" "74641731" "74641731" "subst" "0.000472654" "01943" "ZDHHC15_000007" "g.74641731C>G" "" "" "" "ZDHHC15(NM_144969.2):c.831G>C (p.K277N), ZDHHC15(NM_144969.3):c.831G>C (p.K277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682641" "0" "10" "X" "74651370" "74651370" "del" "0" "02325" "ZDHHC15_000017" "g.74651370del" "" "" "" "ZDHHC15(NM_001146256.1):c.353-5delT (p.?), ZDHHC15(NM_144969.3):c.380-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682642" "0" "30" "X" "74725650" "74725650" "subst" "1.12344E-5" "01943" "ZDHHC15_000022" "g.74725650T>A" "" "" "" "ZDHHC15(NM_144969.2):c.163+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693744" "0" "30" "X" "74649819" "74649819" "subst" "0.000114469" "01943" "ZDHHC15_000016" "g.74649819C>T" "" "" "" "ZDHHC15(NM_001146256.1):c.423-4G>A (p.?), ZDHHC15(NM_144969.2):c.450-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729193" "0" "30" "X" "74636982" "74636982" "subst" "7.28937E-5" "01943" "ZDHHC15_000023" "g.74636982A>T" "" "" "" "ZDHHC15(NM_144969.2):c.907T>A (p.S303T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810668" "0" "30" "X" "74670562" "74670562" "subst" "7.40737E-5" "01943" "ZDHHC15_000024" "g.74670562T>G" "" "" "" "ZDHHC15(NM_001146257.1):c.427A>C (p.N143H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867565" "0" "30" "X" "74670557" "74670557" "subst" "1.15153E-5" "01943" "ZDHHC15_000025" "g.74670557C>A" "" "" "" "ZDHHC15(NM_144969.2):c.379+80G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896367" "0" "30" "X" "74637000" "74637000" "subst" "0" "01943" "ZDHHC15_000026" "g.74637000T>C" "" "" "" "ZDHHC15(NM_144969.2):c.889A>G (p.M297V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984861" "0" "30" "X" "74651277" "74651277" "subst" "0.00011723" "01804" "ZDHHC15_000027" "g.74651277G>A" "" "" "" "ZDHHC15(NM_144969.3):c.449+9C>T" "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 ZDHHC15 ## Count = 27 "{{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}}" "0000007192" "00000990" "50" "1046" "268" "1046" "268" "c.*32+268G>A" "r.(=)" "p.(=)" "" "0000007193" "00000990" "50" "1046" "52" "1046" "52" "c.*32+52C>T" "r.(=)" "p.(=)" "" "0000007194" "00000990" "50" "-335" "0" "-335" "0" "c.-335G>C" "r.(?)" "p.(=)" "" "0000009288" "00000990" "50" "1046" "52" "1046" "52" "c.*32+52C>T" "r.(=)" "p.(=)" "" "0000015167" "00000990" "50" "1046" "268" "1046" "268" "c.*32+268G>A" "r.(=)" "p.(=)" "" "0000315525" "00000990" "10" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Lys277Asn)" "" "0000320120" "00000990" "50" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "" "0000320121" "00000990" "50" "704" "0" "704" "0" "c.704G>C" "r.(?)" "p.(Cys235Ser)" "" "0000334684" "00000990" "50" "164" "-8" "164" "-8" "c.164-8dup" "r.(=)" "p.(=)" "" "0000334686" "00000990" "30" "164" "-8" "164" "-8" "c.164-8del" "r.(=)" "p.(=)" "" "0000334687" "00000990" "50" "55" "0" "55" "0" "c.55G>C" "r.(?)" "p.(Val19Leu)" "" "0000341621" "00000990" "50" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0000577467" "00000990" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000577468" "00000990" "30" "450" "-4" "450" "-4" "c.450-4G>A" "r.spl?" "p.?" "" "0000577469" "00000990" "30" "380" "-5" "380" "-5" "c.380-5del" "r.spl?" "p.?" "" "0000577471" "00000990" "30" "269" "0" "269" "0" "c.269C>G" "r.(?)" "p.(Ser90Cys)" "" "0000577472" "00000990" "50" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "" "0000577473" "00000990" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "" "0000682640" "00000990" "30" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Lys277Asn)" "" "0000682641" "00000990" "10" "380" "-5" "380" "-5" "c.380-5del" "r.spl?" "p.?" "" "0000682642" "00000990" "30" "163" "6" "163" "6" "c.163+6A>T" "r.(=)" "p.(=)" "" "0000693744" "00000990" "30" "450" "-4" "450" "-4" "c.450-4G>A" "r.spl?" "p.?" "" "0000729193" "00000990" "30" "907" "0" "907" "0" "c.907T>A" "r.(?)" "p.(Ser303Thr)" "" "0000810668" "00000990" "30" "379" "75" "379" "75" "c.379+75A>C" "r.(=)" "p.(=)" "" "0000867565" "00000990" "30" "379" "80" "379" "80" "c.379+80G>T" "r.(=)" "p.(=)" "" "0000896367" "00000990" "30" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Met297Val)" "" "0000984861" "00000990" "30" "449" "9" "449" "9" "c.449+9C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007192" "0000000209" "0000007193" "0000000209" "0000007194" "0000000210" "0000009288" "0000000210" "0000015167"