### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HSD17B10) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "HSD17B10" "hydroxysteroid (17-beta) dehydrogenase 10" "X" "p11.2" "unknown" "NC_000023.10" "UD_132118474895" "" "" "" "1" "1" "4800" "3028" "300256" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "{{iNote}}" "{{chrom}}" "00000821" "HSD17B10" "transcript variant 2" "001" "NM_001037811.2" "" "NP_001032900.1" "" "" "" "-31" "905" "759" "53461323" "53458206" "00001" "2013-11-12 21:42:02" "" "" "" "X" "00000822" "HSD17B10" "transcript variant 1" "002" "NM_004493.2" "" "NP_004484.1" "" "" "" "-31" "932" "786" "53461323" "53458206" "00001" "2013-11-12 21:42:02" "" "" "" "X" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00526" "300438" "HSD10 mitochondrial disease, 300438 (3)" "300438" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HSD17B10" "00526" ## 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 ## ## 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 = 13 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000023491" "0" "99" "X" "53458393" "53458393" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:30:34" "HSD17B10_000011" "g.53458393C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023491" "" "0000023492" "0" "99" "X" "53458398" "53458398" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:26:31" "HSD17B10_000010" "g.53458398T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023492" "" "0000023493" "0" "99" "X" "53458461" "53458461" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 06:20:14" "HSD17B10_000001" "g.53458461C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023493" "" "0000023494" "0" "99" "X" "53458504" "53458504" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:26:51" "HSD17B10_000002" "g.53458504T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023494" "" "0000023495" "0" "77" "X" "53458749" "53458749" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:26:43" "HSD17B10_000003" "g.53458749G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023495" "" "0000023496" "0" "99" "X" "53458767" "53458767" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 13:03:05" "HSD17B10_000004" "g.53458767G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023496" "" "0000023497" "0" "99" "X" "53459034" "53459034" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 13:12:57" "HSD17B10_000005" "g.53459034G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023497" "" "0000023498" "0" "99" "X" "53459058" "53459058" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:27:39" "HSD17B10_000006" "g.53459058G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023498" "" "0000023499" "0" "99" "X" "53459295" "53459295" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:26:34" "HSD17B10_000007" "g.53459295T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023499" "" "0000023500" "0" "55" "X" "53459334" "53459334" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 12:27:22" "HSD17B10_000008" "g.53459334G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023500" "" "0000023501" "0" "55" "X" "53459358" "53459358" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 13:12:38" "HSD17B10_000009" "g.53459358A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023501" "" "0000026845" "0" "00" "X" "53459293" "53459293" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:44:32" "HSD17B10_000013" "g.53459293C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026846" "0" "00" "X" "53459299" "53459299" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-08 06:20:14" "HSD17B10_000012" "g.53459299C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 26 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000023491" "00000821" "00" "718" "0" "718" "0" "c.718G>C" "" "p.(Glu240Gln)" "r.(?)" "" "" "" "" "" "-" "0000023491" "00000822" "00" "745" "0" "745" "0" "c.745G>C" "" "p.(Glu249Gln)" "r.(?)" "" "" "" "" "" "-" "0000023492" "00000821" "00" "713" "0" "713" "0" "c.713A>G" "" "p.(Asn238Ser)" "r.(?)" "" "" "" "" "" "-" "0000023492" "00000822" "00" "740" "0" "740" "0" "c.740A>G" "" "p.(Asn247Ser)" "r.(?)" "" "" "" "" "" "-" "0000023493" "00000821" "00" "650" "0" "650" "0" "c.650G>A" "" "p.(Arg217Gln)" "r.(?)" "" "" "" "" "" "-" "0000023493" "00000822" "00" "677" "0" "677" "0" "c.677G>A" "" "p.(Arg226Gln)" "r.(?)" "" "" "" "" "" "-" "0000023494" "00000821" "00" "607" "0" "607" "0" "c.607A>G" "" "p.(Lys203Glu)" "r.(?)" "" "" "" "" "" "-" "0000023494" "00000822" "00" "634" "0" "634" "0" "c.634A>G" "" "p.(Lys212Glu)" "r.(?)" "" "" "" "" "" "-" "0000023495" "00000821" "00" "568" "24" "568" "24" "c.568+24C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023495" "00000822" "00" "592" "0" "592" "0" "c.592C>A" "" "p.(Pro198Thr)" "r.(?)" "" "" "" "" "" "-" "0000023496" "00000821" "00" "568" "6" "568" "6" "c.568+6C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023496" "00000822" "00" "574" "0" "574" "0" "c.574C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023497" "00000821" "00" "388" "0" "388" "0" "c.388C>T" "" "p.(Arg130Cys)" "r.(?)" "" "" "" "" "" "-" "0000023497" "00000822" "00" "388" "0" "388" "0" "c.388C>T" "" "p.(Arg130Cys)" "r.(?)" "" "" "" "" "" "-" "0000023498" "00000821" "00" "364" "0" "364" "0" "c.364C>G" "" "p.(Leu122Val)" "r.(?)" "" "" "" "" "" "-" "0000023498" "00000822" "00" "364" "0" "364" "0" "c.364C>G" "" "p.(Leu122Val)" "r.(?)" "" "" "" "" "" "-" "0000023499" "00000821" "00" "257" "0" "257" "0" "c.257A>G" "" "p.(Asp86Gly)" "r.(?)" "" "" "" "" "" "-" "0000023499" "00000822" "00" "257" "0" "257" "0" "c.257A>G" "" "p.(Asp86Gly)" "r.(?)" "" "" "" "" "" "-" "0000023500" "00000821" "00" "218" "0" "218" "0" "c.218C>G" "" "p.(Thr73Arg)" "r.(?)" "" "" "" "" "" "-" "0000023500" "00000822" "00" "218" "0" "218" "0" "c.218C>G" "" "p.(Thr73Arg)" "r.(?)" "" "" "" "" "" "-" "0000023501" "00000821" "00" "194" "0" "194" "0" "c.194T>C" "" "p.(Val65Ala)" "r.(?)" "" "" "" "" "" "-" "0000023501" "00000822" "00" "194" "0" "194" "0" "c.194T>C" "" "p.(Val65Ala)" "r.(?)" "" "" "" "" "" "-" "0000026845" "00000821" "00" "259" "0" "259" "0" "c.259G>A" "" "p.(Val87Ile)" "r.(?)" "" "" "" "" "" "-" "0000026845" "00000822" "00" "259" "0" "259" "0" "c.259G>A" "" "p.(Val87Ile)" "r.(?)" "" "" "" "" "" "-" "0000026846" "00000821" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Val85Met)" "r.(?)" "" "" "" "" "" "-" "0000026846" "00000822" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Val85Met)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0