### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C5orf60)
# 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}}"
"C5orf60" "chromosome 5 open reading frame 60" "5" "q35.3" "unknown" "NC_000005.9" "UD_136022381541" "" "https://www.LOVD.nl/SPATA31J1" "" "1" "27753" "285679" "0" "1" "1" "1" "1" "Alias C5orf60.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C5orf60 to SPATA31J1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-11 19:57:12" "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}}"
"00003779" "C5orf60" "chromosome 5 open reading frame 60" "001" "NM_001142306.1" "" "NP_001135778.1" "" "" "" "-26" "1169" "834" "179072047" "179068558" "" "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 = 5
"{{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}}"
"0000330784" "0" "30" "5" "179070210" "179070210" "subst" "0" "01804" "C5orf60_000003" "g.179070210A>G" "" "" "" "C5orf60(NM_001142306.1):c.343T>C (p.(Cys115Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179643209A>G" "" "likely benign" ""
"0000525396" "0" "50" "5" "179069322" "179069322" "subst" "6.74709E-6" "01804" "C5orf60_000002" "g.179069322C>T" "" "" "" "C5orf60(NM_001142306.1):c.*13+5G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179642321C>T" "" "VUS" ""
"0000677491" "0" "30" "5" "179069987" "179069987" "subst" "0.000230469" "01943" "C5orf60_000005" "g.179069987G>A" "" "" "" "C5orf60(NM_001305388.1):c.566C>T (p.P189L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994954" "0" "30" "5" "179069426" "179069426" "subst" "1.3238E-5" "01804" "C5orf60_000006" "g.179069426C>T" "" "" "" "C5ORF60(NM_001142306.1):c.748G>A (p.(Ala250Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994955" "0" "30" "5" "179071822" "179071822" "subst" "0.00366111" "01804" "C5orf60_000007" "g.179071822G>C" "" "" "" "C5ORF60(NM_001142306.1):c.200C>G (p.(Pro67Arg))" "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 C5orf60
## Count = 5
"{{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}}"
"0000330784" "00003779" "30" "343" "0" "343" "0" "c.343T>C" "r.(?)" "p.(Cys115Arg)" ""
"0000525396" "00003779" "50" "847" "5" "847" "5" "c.*13+5G>A" "r.spl?" "p.?" ""
"0000677491" "00003779" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" ""
"0000994954" "00003779" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Ala250Thr)" ""
"0000994955" "00003779" "30" "200" "0" "200" "0" "c.200C>G" "r.(?)" "p.(Pro67Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0