### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HNRNPH1) # 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}}" "HNRNPH1" "heterogeneous nuclear ribonucleoprotein H1 (H)" "5" "q35.3" "unknown" "NC_000005.9" "UD_133033998882" "" "https://www.LOVD.nl/HNRNPH1" "" "1" "5041" "3187" "601035" "1" "1" "1" "1" "MANE transcript NM_001257293.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2024-01-01 19:40:34" "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}}" "00025894" "HNRNPH1" "transcript variant 1" "008" "NM_001257293.1" "" "NP_001244222.1" "" "" "" "-147" "2132" "1350" "179050711" "179041179" "00006" "2024-01-01 19:42:20" "" "" ## 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}}" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07059" "NEDCDS" "neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects" "AD" "620083" "" "" "" "00006" "2024-01-01 19:38:35" "00006" "2024-01-01 19:41:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HNRNPH1" "07059" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "" "" "00445047" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CCMR01015" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00445047" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00296, 01157, 07059 ## Count = 3 "{{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}}" "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" "" "" "" "" "" "" "" "0000334299" "00296" "00445047" "00006" "Familial, autosomal dominant" "" "bilateral cataract" "" "" "" "" "" "" "" "CTRCT5" "cataract" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "0000446617" "00445047" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "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 = 17 "{{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}}" "0000002398" "3" "50" "5" "179043983" "179043984" "dup" "0" "00037" "HNRNPH1_000007" "g.179043983_179043984dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179616982_179616983dup" "" "VUS" "" "0000004265" "3" "50" "5" "179043075" "179043075" "subst" "0" "00037" "HNRNPH1_000004" "g.179043075T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179616074T>C" "" "VUS" "" "0000004266" "3" "50" "5" "179043647" "179043647" "subst" "0" "00037" "HNRNPH1_000006" "g.179043647T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179616646T>G" "" "VUS" "" "0000004267" "3" "50" "5" "179048449" "179048449" "subst" "0" "00037" "HNRNPH1_000001" "g.179048449T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179621448T>G" "" "VUS" "" "0000010427" "3" "50" "5" "179043983" "179043984" "dup" "0" "00037" "HNRNPH1_000007" "g.179043983_179043984dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179616982_179616983dup" "" "VUS" "" "0000012245" "3" "50" "5" "179043075" "179043075" "subst" "0" "00037" "HNRNPH1_000004" "g.179043075T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179616074T>C" "" "VUS" "" "0000012246" "3" "50" "5" "179048449" "179048449" "subst" "0" "00037" "HNRNPH1_000001" "g.179048449T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179621448T>G" "" "VUS" "" "0000012247" "3" "50" "5" "179048585" "179048585" "subst" "0" "00037" "HNRNPH1_000003" "g.179048585T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.179621584T>C" "" "VUS" "" "0000525393" "0" "50" "5" "179043886" "179043886" "subst" "0" "01804" "HNRNPH1_000008" "g.179043886C>T" "" "" "" "HNRNPH1(NM_001257293.2):c.1191G>A (p.(Met397Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179616885C>T" "" "VUS" "" "0000525394" "0" "50" "5" "179043888" "179043888" "subst" "0" "01804" "HNRNPH1_000009" "g.179043888T>G" "" "" "" "HNRNPH1(NM_001257293.2):c.1189A>C (p.(Met397Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179616887T>G" "" "VUS" "" "0000850882" "0" "30" "5" "179045256" "179045256" "subst" "4.06111E-6" "02327" "HNRNPH1_000011" "g.179045256A>G" "" "" "" "HNRNPH1(NM_001257293.2):c.605T>C (p.M202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924324" "0" "50" "5" "179043160" "179043160" "subst" "0" "02325" "HNRNPH1_000012" "g.179043160C>A" "" "" "" "HNRNPH1(NM_001257293.2):c.1267G>T (p.G423C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954970" "1" "70" "5" "179043886" "179043886" "dup" "0" "00006" "HNRNPH1_000014" "g.179043886dup" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PSV1, PM2" "Germline" "" "" "0" "" "" "g.179616885dup" "" "likely pathogenic (dominant)" "" "0000976755" "0" "30" "5" "179050171" "179050171" "subst" "0.00587791" "01804" "HNRNPH1_000015" "g.179050171A>C" "" "" "" "HNRNPH1(NM_001257293.2):c.-31-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994953" "0" "50" "5" "179045256" "179045256" "subst" "4.06111E-6" "02325" "HNRNPH1_000011" "g.179045256A>G" "" "" "" "HNRNPH1(NM_001257293.2):c.605T>C (p.M202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035143" "0" "50" "5" "179044602" "179044602" "subst" "0" "01804" "HNRNPH1_000016" "g.179044602C>A" "" "" "" "HNRNPH1(NM_001257293.2):c.970G>T (p.(Asp324Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035144" "0" "30" "5" "179049405" "179049405" "subst" "0" "01804" "HNRNPH1_000017" "g.179049405T>G" "" "" "" "HNRNPH1(NM_001257293.2):c.97+633A>C" "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 HNRNPH1 ## Count = 17 "{{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}}" "0000002398" "00025894" "50" "1118" "-25" "1118" "-24" "c.1118-25_1118-24dup" "r.(=)" "p.(=)" "" "0000004265" "00025894" "50" "1300" "52" "1300" "52" "c.1300+52A>G" "r.(=)" "p.(=)" "" "0000004266" "00025894" "50" "1207" "223" "1207" "223" "c.1207+223A>C" "r.(=)" "p.(=)" "" "0000004267" "00025894" "50" "98" "-51" "98" "-51" "c.98-51A>C" "r.(=)" "p.(=)" "" "0000010427" "00025894" "50" "1118" "-25" "1118" "-24" "c.1118-25_1118-24dup" "r.(=)" "p.(=)" "" "0000012245" "00025894" "50" "1300" "52" "1300" "52" "c.1300+52A>G" "r.(=)" "p.(=)" "" "0000012246" "00025894" "50" "98" "-51" "98" "-51" "c.98-51A>C" "r.(=)" "p.(=)" "" "0000012247" "00025894" "50" "98" "-187" "98" "-187" "c.98-187A>G" "r.(=)" "p.(=)" "" "0000525393" "00025894" "50" "1191" "0" "1191" "0" "c.1191G>A" "r.(?)" "p.(Met397Ile)" "" "0000525394" "00025894" "50" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Met397Leu)" "" "0000850882" "00025894" "30" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Met202Thr)" "" "0000924324" "00025894" "50" "1267" "0" "1267" "0" "c.1267G>T" "r.(?)" "p.(Gly423Cys)" "" "0000954970" "00025894" "70" "1193" "0" "1193" "0" "NM_005520.2:c.1193dup" "r.(?)" "p.(Gly399ArgfsTer45)" "" "0000976755" "00025894" "30" "-31" "-6" "-31" "-6" "c.-31-6T>G" "r.(=)" "p.(=)" "" "0000994953" "00025894" "50" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Met202Thr)" "" "0001035143" "00025894" "50" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.(Asp324Tyr)" "" "0001035144" "00025894" "30" "97" "633" "97" "633" "c.97+633A>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002398" "0000000209" "0000004265" "0000000209" "0000004266" "0000000209" "0000004267" "0000000210" "0000010427" "0000000210" "0000012245" "0000000210" "0000012246" "0000000210" "0000012247" "0000446617" "0000954970"