### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C7orf10)
# 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}}"
"C7orf10" "chromosome 7 open reading frame 10" "7" "p14" "unknown" "NC_000007.13" "UD_132118585115" "" "https://www.LOVD.nl/SUGCT" "" "1" "16001" "79783" "609187" "1" "1" "1" "1" "Alias c7orf10.\r\ngene name changed to SUGCT.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/C7orf10_codingDNA.html" "1" "" "gene name changed to SUGCT" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-14 16:20:38" "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}}"
"00025645" "C7orf10" "transcript variant 3" "002" "NM_001193313.1" "" "NP_001180242.1" "" "" "" "-24" "1626" "1338" "40174575" "40900366" "00006" "2021-10-20 16:02:37" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32"
"00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25"
"01817" "GA3" "Glutaric aciduria III" "AR" "231690" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C7orf10" "01817"
## 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}}"
"00080072" "" "" "" "1" "" "01594" "{PMID:Nakabayashi 2002:11829489}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "" "M" "" "Canada" "" "0" "" "" "" "11829489-Pat5"
"00181170" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "68944"
"00438695" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0722"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00080072" "00198"
"00080072" "00232"
"00181170" "00344"
"00438695" "06906"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00232, 00344, 01817, 06906
## Count = 3
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000082717" "00232" "00080072" "01594" "Unknown" "" "" "" "no macrocephaly congenital" "" "nr" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "asymmetric growth" "SRS n/a (Netchine Harbison-Score 3/4)" "SRS" ""
"0000144007" "00344" "00181170" "02552" "Isolated (sporadic)" "" "" "00y02m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000328598" "06906" "00438695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ""
## 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}}"
"0000080151" "00080072" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH" "DNA" "" ""
"0000182128" "00181170" "1" "02552" "02552" "2018-10-02 14:42:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES"
"0000440177" "00438695" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
## 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}}" "{{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}}"
"0000129071" "0" "50" "7" "20900000" "40174720" "inv" "0" "01594" "C7orf10_000001" "g.(7300001_20900000)_(40174720_40220545)inv" "" "{PMID:Nakabayashi 2002:11829489}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "" "" "inversion break point between intron 1 of C7orf10 and C7orf11 (NH0147K18+)" "De novo" "" "" "0" "" "46,XY,inv(7)(p21p14.1).ish" "" "" "VUS" ""
"0000315918" "0" "50" "7" "40498796" "40498796" "subst" "0.00465787" "01943" "C7orf10_000003" "g.40498796C>T" "" "" "" "SUGCT(NM_001193311.1):c.1006C>T (p.R336W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40459197C>T" "" "VUS" ""
"0000315919" "0" "50" "7" "40228169" "40228169" "subst" "3.55284E-5" "01943" "C7orf10_000002" "g.40228169G>A" "" "" "" "SUGCT(NM_001193311.1):c.323G>A (p.R108Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40188570G>A" "" "VUS" ""
"0000406011" "11" "10" "7" "40498796" "40498796" "subst" "0.00465787" "02552" "C7orf10_000003" "g.40498796C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs137852860" "0" "" "" "g.40459197C>T" "" "benign" ""
"0000531960" "0" "30" "7" "40220571" "40220571" "subst" "0.00127261" "01943" "C7orf10_000005" "g.40220571A>C" "" "" "" "SUGCT(NM_001193311.1):c.147A>C (p.E49D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40180972A>C" "" "likely benign" ""
"0000611060" "0" "30" "7" "40234612" "40234612" "subst" "0" "01943" "C7orf10_000006" "g.40234612A>C" "" "" "" "SUGCT(NM_001193311.1):c.458A>C (p.E153A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40195013A>C" "" "likely benign" ""
"0000611061" "0" "50" "7" "40277267" "40277267" "subst" "0.000113733" "01943" "C7orf10_000007" "g.40277267C>T" "" "" "" "SUGCT(NM_001193311.1):c.539C>T (p.A180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40237668C>T" "" "VUS" ""
"0000689998" "0" "70" "7" "40173948" "40173948" "del" "0" "01943" "C7orf10_000008" "g.40173948del" "" "" "" "MPLKIP(NM_138701.3):c.221delC (p.P74Rfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000803147" "0" "50" "7" "40229147" "40229147" "subst" "0.000112201" "01943" "C7orf10_000009" "g.40229147T>G" "" "" "" "SUGCT(NM_001193311.1):c.338T>G (p.I113S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000936335" "0" "50" "7" "40356363" "40356363" "subst" "0" "00006" "C7orf10_000010" "g.40356363C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_024728:c.C635T (A212V)" "" "De novo" "" "" "0" "" "" "" "" "VUS" ""
"0000977695" "0" "50" "7" "40172688" "40172688" "subst" "8.12486E-6" "01804" "MPLKIP_000011" "g.40172688G>C" "" "" "" "MPLKIP(NM_138701.4):c.510C>G (p.(Phe170Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977696" "0" "50" "7" "40172694" "40172694" "subst" "0" "01804" "MPLKIP_000012" "g.40172694T>G" "" "" "" "MPLKIP(NM_138701.4):c.504A>C (p.(Gln168His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977697" "0" "50" "7" "40174104" "40174104" "subst" "1.56928E-5" "01804" "MPLKIP_000013" "g.40174104C>G" "" "" "" "MPLKIP(NM_138701.4):c.63G>C (p.(Trp21Cys))" "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 C7orf10
## Count = 13
"{{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}}"
"0000129071" "00025645" "90" "0" "0" "0" "0" "c.-24_(121+1_122-1){1}" "r.?" "p.?" "_1_1i"
"0000315918" "00025645" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" ""
"0000315919" "00025645" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108Gln)" ""
"0000406011" "00025645" "10" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" ""
"0000531960" "00025645" "30" "147" "0" "147" "0" "c.147A>C" "r.(?)" "p.(Glu49Asp)" ""
"0000611060" "00025645" "30" "458" "0" "458" "0" "c.458A>C" "r.(?)" "p.(Glu153Ala)" ""
"0000611061" "00025645" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Ala180Val)" ""
"0000689998" "00025645" "70" "-651" "0" "-651" "0" "c.-651del" "r.(?)" "p.(=)" ""
"0000803147" "00025645" "50" "338" "0" "338" "0" "c.338T>G" "r.(?)" "p.(Ile113Ser)" ""
"0000936335" "00025645" "50" "746" "0" "746" "0" "c.746C>T" "" "" ""
"0000977695" "00025645" "50" "-1911" "0" "-1911" "0" "c.-1911G>C" "r.(?)" "p.(=)" ""
"0000977696" "00025645" "50" "-1905" "0" "-1905" "0" "c.-1905T>G" "r.(?)" "p.(=)" ""
"0000977697" "00025645" "50" "-495" "0" "-495" "0" "c.-495C>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000080151" "0000129071"
"0000182128" "0000406011"
"0000440177" "0000936335"