### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C10orf10) # 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}}" "C10orf10" "chromosome 10 open reading frame 10" "10" "q11.21" "unknown" "NC_000010.10" "UD_136085930643" "" "https://www.LOVD.nl/DEPP1" "" "1" "23355" "11067" "611309" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from C10orf10 to DEPP1.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene symbol was recently changed from C10orf10 to DEPP1." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-22 17:06:13" "00000" "2024-08-28 13:16:32" ## 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}}" "00003908" "C10orf10" "chromosome 10 open reading frame 10" "001" "NM_007021.3" "" "NP_008952.1" "" "" "" "-290" "1770" "639" "45474330" "45471709" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 4 "{{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}}" "0000539902" "0" "30" "10" "45485168" "45485168" "subst" "4.06062E-6" "01804" "C10orf10_000001" "g.45485168G>C" "" "" "" "RASSF4(NM_032023.3):c.684G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44989720G>C" "" "likely benign" "" "0000998296" "0" "50" "10" "45484728" "45484728" "subst" "4.88226E-5" "01804" "C10orf10_000002" "g.45484728G>A" "" "" "" "RASSF4(NM_032023.3):c.538G>A (p.(Val180Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998297" "0" "50" "10" "45486414" "45486414" "subst" "0.000138143" "01804" "C10orf10_000003" "g.45486414A>G" "" "" "" "RASSF4(NM_032023.3):c.704A>G (p.(Asp235Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998298" "0" "30" "10" "45488725" "45488725" "subst" "0" "01804" "C10orf10_000004" "g.45488725C>G" "" "" "" "RASSF4(NM_032023.3):c.914C>G (p.(Ala305Gly))" "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 C10orf10 ## Count = 4 "{{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}}" "0000539902" "00003908" "30" "-11128" "0" "-11128" "0" "c.-11128C>G" "r.(?)" "p.(=)" "" "0000998296" "00003908" "50" "-10688" "0" "-10688" "0" "c.-10688C>T" "r.(?)" "p.(=)" "" "0000998297" "00003908" "50" "-12374" "0" "-12374" "0" "c.-12374T>C" "r.(?)" "p.(=)" "" "0000998298" "00003908" "30" "-14685" "0" "-14685" "0" "c.-14685G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0