### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C11orf80) # 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}}" "C11orf80" "chromosome 11 open reading frame 80" "11" "q13.2" "unknown" "NC_000011.9" "UD_136085943760" "" "https://www.LOVD.nl/C11orf80" "" "1" "26197" "79703" "616109" "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/C11orf80_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-29 23:20:37" "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}}" "00003968" "C11orf80" "transcript variant 1" "001" "NM_024650.3" "" "NP_078926.3" "" "" "" "-7" "2316" "2034" "66512207" "66610987" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05472" "HYDM" "mole, hydatidiform, recurrent (HYDM)" "" "" "" "" "" "00006" "2018-09-29 23:17:06" "" "" "06141" "HYDM4" "Hydatidiform mole, recurrent, 4" "AR" "618432" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C11orf80" "06141" ## 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}}" "00181112" "" "" "" "1" "" "02576" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "(Canada)" "" "0" "" "" "Indian" "1031" "00181113" "" "" "" "1" "" "02576" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "2-generation family, 1 affected, unaffected parents" "F" "" "(Canada)" "" "0" "" "" "Mexican" "30388401-HM74" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00181112" "05472" "00181113" "05472" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05472, 06141 ## Count = 2 "{{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}}" "0000143356" "05472" "00181112" "02576" "Familial, autosomal recessive" "" "diagnosed with recurrent androgenetic hydatidiform mole" "" "" "" "" "" "" "" "" "" "0000143357" "05472" "00181113" "02576" "Familial, autosomal recessive" "" "diagnosed with recurrent hydatidiform mole" "" "" "" "" "" "" "" "" "" ## 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}}" "0000182069" "00181112" "1" "02576" "02576" "2018-09-28 21:18:37" "" "" "SEQ-NG" "DNA" "" "WES (whole exome sequencing" "0000182070" "00181113" "1" "02576" "02576" "2018-09-28 21:26:54" "" "" "SEQ-NG" "DNA" "" "WES (whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000182069" "TAAR5" ## 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 = 28 "{{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}}" "0000305064" "0" "50" "11" "66618333" "66618333" "subst" "4.52891E-5" "01943" "PC_000004" "g.66618333C>T" "" "" "" "PC(NM_001040716.1):c.2285G>A (p.R762H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850862C>T" "" "VUS" "" "0000305065" "0" "50" "11" "66617593" "66617595" "del" "0" "01943" "PC_000002" "g.66617593_66617595del" "" "" "" "PC(NM_001040716.1):c.2719-5_2719-3delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850122_66850124del" "" "VUS" "" "0000322338" "0" "50" "11" "66611335" "66611335" "subst" "0" "01804" "C11orf80_000005" "g.66611335G>A" "" "" "" "RCE1(NM_001032279.1):c.-21+3G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66843864G>A" "" "VUS" "" "0000322341" "0" "50" "11" "66617823" "66617823" "subst" "0" "01804" "PC_000003" "g.66617823A>T" "" "" "" "PC(NM_000920.3):c.2586T>A (p.(Tyr862Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850352A>T" "" "VUS" "" "0000405891" "3" "70" "11" "66568511" "66568511" "dup" "0" "02576" "C11orf80_000007" "g.66568511dup" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "" "rs779402951" "0" "" "" "g.66801040dup" "" "likely pathogenic (recessive)" "" "0000405892" "3" "70" "11" "66590077" "66590077" "subst" "0" "02576" "C11orf80_000008" "g.66590077T>C" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "" "" "0" "" "" "g.66822606T>C" "" "likely pathogenic (recessive)" "" "0000545281" "0" "50" "11" "66512297" "66512298" "ins" "0" "01943" "C11orf80_000009" "g.66512297_66512298insCCG" "" "" "" "C11orf80(NM_024650.3):c.84_85insCCG (p.A28_A29insP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66744826_66744827insCCG" "" "VUS" "" "0000545282" "0" "50" "11" "66512305" "66512316" "dup" "0" "02325" "C11orf80_000010" "g.66512305_66512316dup" "" "" "" "C11orf80(NM_024650.3):c.92_103dupCGGCGGCGGCGG (p.A31_A34dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66744834_66744845dup" "" "VUS" "" "0000545325" "0" "30" "11" "66610937" "66610937" "subst" "0" "01804" "C11orf80_000013" "g.66610937T>A" "" "" "" "RCE1(NM_001032279.1):c.-298T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66843466T>A" "" "likely benign" "" "0000545334" "0" "50" "11" "66616566" "66616566" "subst" "0.000302016" "01943" "C11orf80_000014" "g.66616566G>A" "" "" "" "PC(NM_001040716.1):c.3341C>T (p.A1114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66849095G>A" "" "VUS" "" "0000545337" "0" "10" "11" "66617727" "66617727" "subst" "0.00132416" "01943" "C11orf80_000016" "g.66617727A>G" "" "" "" "PC(NM_001040716.1):c.2682T>C (p.Y894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850256A>G" "" "benign" "" "0000545338" "0" "30" "11" "66618293" "66618293" "subst" "0.000295142" "01943" "C11orf80_000017" "g.66618293C>T" "" "" "" "PC(NM_001040716.1):c.2325G>A (p.T775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850822C>T" "" "likely benign" "" "0000545339" "0" "10" "11" "66618369" "66618369" "subst" "0.00152104" "01943" "C11orf80_000018" "g.66618369G>A" "" "" "" "PC(NM_001040716.1):c.2249C>T (p.T750M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850898G>A" "" "benign" "" "0000679302" "0" "30" "11" "66618137" "66618137" "subst" "4.16365E-6" "01943" "C11orf80_000020" "g.66618137C>T" "" "" "" "PC(NM_001040716.1):c.2473+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691148" "0" "30" "11" "66555707" "66555707" "subst" "2.03107E-5" "01943" "C11orf80_000021" "g.66555707G>A" "" "" "" "C11orf80(NM_024650.3):c.600G>A (p.M200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691149" "0" "30" "11" "66589136" "66589136" "subst" "0" "01943" "C11orf80_000022" "g.66589136T>C" "" "" "" "C11orf80(NM_024650.3):c.1359T>C (p.T453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723645" "0" "30" "11" "66617187" "66617187" "subst" "6.09187E-5" "01943" "C11orf80_000023" "g.66617187G>A" "" "" "" "PC(NM_001040716.1):c.3042C>T (p.P1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723646" "0" "30" "11" "66617859" "66617859" "subst" "0.000958586" "01943" "C11orf80_000024" "g.66617859G>A" "" "" "" "PC(NM_001040716.1):c.2550C>T (p.C850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805326" "0" "50" "11" "66617523" "66617523" "subst" "0.000122038" "01943" "C11orf80_000025" "g.66617523C>T" "" "" "" "PC(NM_001040716.1):c.2783G>A (p.R928Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853115" "0" "30" "11" "66590142" "66590142" "subst" "2.61575E-5" "01943" "C11orf80_000026" "g.66590142T>A" "" "" "" "C11orf80(NM_024650.3):c.1566T>A (p.L522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853116" "0" "30" "11" "66605858" "66605858" "subst" "8.12308E-6" "01943" "C11orf80_000028" "g.66605858G>A" "" "" "" "C11orf80(NM_024650.3):c.1689G>A (p.K563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862654" "0" "30" "11" "66590148" "66590148" "subst" "0" "01943" "C11orf80_000027" "g.66590148T>A" "" "" "" "C11orf80(NM_024650.3):c.1569+3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862655" "0" "50" "11" "66610422" "66610422" "subst" "0" "01943" "C11orf80_000029" "g.66610422C>T" "" "" "" "C11orf80(NM_024650.3):c.1850C>T (p.A617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890113" "0" "50" "11" "66616775" "66616775" "subst" "8.13544E-6" "02327" "C11orf80_000015" "g.66616775C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979783" "0" "50" "11" "66616706" "66616706" "subst" "0" "01804" "C11orf80_000030" "g.66616706T>G" "" "" "" "PC(NM_001040716.2):c.3283A>C (p.(Met1095Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979784" "0" "50" "11" "66618678" "66618678" "subst" "0" "01804" "C11orf80_000031" "g.66618678T>C" "" "" "" "PC(NM_001040716.2):c.2056A>G (p.(Met686Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038654" "0" "50" "11" "66618207" "66618207" "subst" "0" "01804" "C11orf80_000032" "g.66618207A>G" "" "" "" "PC(NM_001040716.2):c.2411T>C (p.(Met804Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038655" "0" "50" "11" "66618382" "66618382" "subst" "0" "01804" "C11orf80_000033" "g.66618382G>T" "" "" "" "PC(NM_001040716.2):c.2236C>A (p.(Leu746Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 C11orf80 ## Count = 28 "{{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}}" "0000305064" "00003968" "50" "9662" "0" "9662" "0" "c.*7628C>T" "r.(=)" "p.(=)" "" "0000305065" "00003968" "50" "8922" "0" "8924" "0" "c.*6888_*6890del" "r.(=)" "p.(=)" "" "0000322338" "00003968" "50" "2664" "0" "2664" "0" "c.*630G>A" "r.(=)" "p.(=)" "" "0000322341" "00003968" "50" "9152" "0" "9152" "0" "c.*7118A>T" "r.(=)" "p.(=)" "" "0000405891" "00003968" "70" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Glu262*)" "" "0000405892" "00003968" "70" "1501" "0" "1501" "0" "c.1501T>C" "r.(?)" "p.(Ser501Pro)" "" "0000545281" "00003968" "50" "84" "0" "85" "0" "c.84_85insCCG" "r.(?)" "p.(Ala28_Ala29insPro)" "" "0000545282" "00003968" "50" "92" "0" "103" "0" "c.92_103dup" "r.(?)" "p.(Ala31_Ala34dup)" "" "0000545325" "00003968" "30" "2266" "0" "2266" "0" "c.*232T>A" "r.(=)" "p.(=)" "" "0000545334" "00003968" "50" "7895" "0" "7895" "0" "c.*5861G>A" "r.(=)" "p.(=)" "" "0000545337" "00003968" "10" "9056" "0" "9056" "0" "c.*7022A>G" "r.(=)" "p.(=)" "" "0000545338" "00003968" "30" "9622" "0" "9622" "0" "c.*7588C>T" "r.(=)" "p.(=)" "" "0000545339" "00003968" "10" "9698" "0" "9698" "0" "c.*7664G>A" "r.(=)" "p.(=)" "" "0000679302" "00003968" "30" "9466" "0" "9466" "0" "c.*7432C>T" "r.(=)" "p.(=)" "" "0000691148" "00003968" "30" "600" "0" "600" "0" "c.600G>A" "r.(?)" "p.(Met200Ile)" "" "0000691149" "00003968" "30" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Thr453=)" "" "0000723645" "00003968" "30" "8516" "0" "8516" "0" "c.*6482G>A" "r.(=)" "p.(=)" "" "0000723646" "00003968" "30" "9188" "0" "9188" "0" "c.*7154G>A" "r.(=)" "p.(=)" "" "0000805326" "00003968" "50" "8852" "0" "8852" "0" "c.*6818C>T" "r.(=)" "p.(=)" "" "0000853115" "00003968" "30" "1566" "0" "1566" "0" "c.1566T>A" "r.(?)" "p.(Leu522=)" "" "0000853116" "00003968" "30" "1689" "0" "1689" "0" "c.1689G>A" "r.(?)" "p.(Lys563=)" "" "0000862654" "00003968" "30" "1569" "3" "1569" "3" "c.1569+3T>A" "r.spl?" "p.?" "" "0000862655" "00003968" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ala617Val)" "" "0000890113" "00003968" "50" "8104" "0" "8104" "0" "c.*6070C>T" "r.(=)" "p.(=)" "" "0000979783" "00003968" "50" "8035" "0" "8035" "0" "c.*6001T>G" "r.(=)" "p.(=)" "" "0000979784" "00003968" "50" "10007" "0" "10007" "0" "c.*7973T>C" "r.(=)" "p.(=)" "" "0001038654" "00003968" "50" "9536" "0" "9536" "0" "c.*7502A>G" "r.(=)" "p.(=)" "" "0001038655" "00003968" "50" "9711" "0" "9711" "0" "c.*7677G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000182069" "0000405891" "0000182070" "0000405892"