### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = THPO) # 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}}" "THPO" "thrombopoietin" "3" "q27" "unknown" "NC_000003.11" "UD_132118829210" "" "https://www.LOVD.nl/THPO" "" "1" "11795" "7066" "600044" "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/THPO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-01 13:10:04" "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}}" "00021101" "THPO" "transcript variant 1" "003" "NM_000460.2" "" "NP_000451.1" "" "" "" "-215" "1590" "1062" "184095932" "184089773" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01578" "THCYT1" "thrombocythemia, type 1" "" "187950" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:05:31" "02514" "CAMT" "thrombocytopenia, amegakaryocytic, congenital (CAMT)" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:08:02" "05773" "THC" "thrombocytopenia (THC)" "" "" "" "" "" "00006" "2020-06-14 16:20:41" "" "" "07020" "CAMT2" "thrombocytopenia, megakaryocytic, congenital, type 2" "AR" "620481" "" "" "" "00006" "2023-09-01 13:04:36" "" "" "07021" "THC9" "thrombocytopenia, type 9" "AD" "620478" "" "" "" "00006" "2023-09-01 13:06:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "THPO" "01578" "THPO" "02514" "THPO" "05773" "THPO" "07020" "THPO" "07021" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01578, 02514, 05773, 07020, 07021 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 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}}" "0000251302" "0" "10" "3" "184094183" "184094183" "subst" "0" "02326" "THPO_000004" "g.184094183A>G" "" "" "" "THPO(NM_000460.4):c.-136T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184376395A>G" "" "benign" "" "0000252805" "0" "50" "3" "184096578" "184096578" "subst" "0" "02326" "THPO_000005" "g.184096578A>G" "" "" "" "THPO(NM_001289998.1):c.-448-413T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184378790A>G" "" "VUS" "" "0000314517" "0" "10" "3" "184090266" "184090266" "subst" "0.556731" "02326" "THPO_000001" "g.184090266C>T" "" "" "" "THPO(NM_000460.4):c.*35G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184372478C>T" "" "benign" "" "0000345141" "0" "70" "3" "184094035" "184094035" "subst" "0" "02327" "THPO_000006" "g.184094035C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184376247C>T" "" "likely pathogenic" "" "0000518685" "0" "10" "3" "184091385" "184091388" "dup" "0" "02326" "THPO_000007" "g.184091385_184091388dup" "" "" "" "THPO(NM_000460.4):c.229-17_229-14dupTTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184373597_184373600dup" "" "benign" "" "0000518686" "0" "10" "3" "184091392" "184091393" "ins" "0" "02326" "THPO_000008" "g.184091392_184091393insGAAG" "" "" "" "THPO(NM_000460.4):c.229-21_229-20insTCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184373604_184373605insGAAG" "" "benign" "" "0000518687" "0" "90" "3" "184094034" "184094034" "subst" "0" "02327" "CHRD_000002" "g.184094034C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184376246C>G" "" "pathogenic" "" "0000518688" "0" "10" "3" "184095976" "184095976" "subst" "0" "02325" "CHRD_000003" "g.184095976C>T" "" "" "" "THPO(NM_001290003.1):c.162G>A (p.(Ala54=), p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184378188C>T" "" "benign" "" "0000719301" "0" "50" "3" "184095863" "184095863" "subst" "0" "02327" "CHRD_000005" "g.184095863C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719302" "0" "30" "3" "184095976" "184095976" "subst" "0" "02327" "CHRD_000003" "g.184095976C>T" "" "" "" "THPO(NM_001290003.1):c.162G>A (p.(Ala54=), p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858913" "0" "30" "3" "184090333" "184090333" "subst" "0.00163644" "01804" "THPO_000009" "g.184090333T>C" "" "" "" "THPO(NM_000460.2):c.1030A>G (p.(Thr344Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885667" "0" "30" "3" "184096051" "184096051" "subst" "0" "02326" "CHRD_000006" "g.184096051C>T" "" "" "" "THPO(NM_001290003.1):c.87G>A (p.K29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928745" "0" "30" "3" "184090390" "184090390" "subst" "6.1058E-5" "02326" "THPO_000010" "g.184090390G>A" "" "" "" "THPO(NM_000460.4):c.973C>T (p.P325S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928746" "0" "50" "3" "184093761" "184093761" "subst" "4.0623E-6" "01804" "CHRD_000007" "g.184093761G>A" "" "" "" "THPO(NM_000460.2):c.56C>T (p.(Thr19Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948087" "0" "30" "3" "184090772" "184090772" "subst" "8.14113E-6" "01804" "THPO_000011" "g.184090772G>A" "" "" "" "THPO(NM_000460.2):c.591C>T (p.(Asn197=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975697" "0" "50" "3" "184090371" "184090371" "subst" "1.62629E-5" "01804" "THPO_000012" "g.184090371G>A" "" "" "" "THPO(NM_000460.4):c.992C>T (p.(Thr331Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975698" "0" "30" "3" "184093787" "184093787" "subst" "4.06197E-6" "01804" "CHRD_000008" "g.184093787G>A" "" "" "" "THPO(NM_000460.4):c.30C>T (p.(Val10=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993480" "0" "30" "3" "184100216" "184100216" "subst" "1.21864E-5" "01804" "CHRD_000009" "g.184100216C>T" "" "" "" "CHRD(NM_003741.2):c.739C>T (p.(Arg247Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033842" "0" "70" "3" "184091243" "184091243" "subst" "0.00012189" "02327" "THPO_000013" "g.184091243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033843" "0" "30" "3" "184095976" "184095976" "subst" "0" "01804" "CHRD_000003" "g.184095976C>T" "" "" "" "THPO(NM_001290003.1):c.162G>A (p.(Ala54=), p.A54=)" "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 THPO ## 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}}" "0000251302" "00021101" "10" "-136" "0" "-136" "0" "c.-136T>C" "r.(?)" "p.(=)" "" "0000252805" "00021101" "50" "-861" "0" "-861" "0" "c.-861T>C" "r.(?)" "p.(=)" "" "0000314517" "00021101" "10" "1097" "0" "1097" "0" "c.*35G>A" "r.(=)" "p.(=)" "" "0000345141" "00021101" "70" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Glu5Lys)" "" "0000518685" "00021101" "10" "229" "-17" "229" "-14" "c.229-17_229-14dup" "r.(=)" "p.(=)" "" "0000518686" "00021101" "10" "229" "-21" "229" "-20" "c.229-21_229-20insTCCT" "r.(=)" "p.(=)" "" "0000518687" "00021101" "90" "13" "1" "13" "1" "c.13+1G>C" "r.spl?" "p.?" "" "0000518688" "00021101" "10" "-259" "0" "-259" "0" "c.-259G>A" "r.(?)" "p.(=)" "" "0000719301" "00021101" "50" "-146" "0" "-146" "0" "c.-146G>T" "r.(?)" "p.(=)" "" "0000719302" "00021101" "30" "-259" "0" "-259" "0" "c.-259G>A" "r.(?)" "p.(=)" "" "0000858913" "00021101" "30" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Thr344Ala)" "" "0000885667" "00021101" "30" "-334" "0" "-334" "0" "c.-334G>A" "r.(?)" "p.(=)" "" "0000928745" "00021101" "30" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Pro325Ser)" "" "0000928746" "00021101" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Met)" "" "0000948087" "00021101" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(=)" "" "0000975697" "00021101" "50" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Thr331Met)" "" "0000975698" "00021101" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(=)" "" "0000993480" "00021101" "30" "-4499" "0" "-4499" "0" "c.-4499G>A" "r.(?)" "p.(=)" "" "0001033842" "00021101" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0001033843" "00021101" "30" "-259" "0" "-259" "0" "c.-259G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0