### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C12orf55)
# 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}}"
"C12orf55" "chromosome 12 open reading frame 55" "12" "q23.1" "unknown" "NC_000012.11" "UD_136085953198" "" "https://www.LOVD.nl/CFAP54" "" "1" "26456" "144535" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C12orf55 to CFAP54" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-07-24 16:17:57" "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}}"
"00025841" "C12orf55" "transcript variant 1" "000" "NM_001306084.2" "" "NP_001293013.1" "" "" "" "-33" "9743" "9291" "96883355" "97269333" "00006" "2023-07-24 16:13:45" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C12orf55" "00201"
## 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}}"
"00435416" "" "" "" "1" "" "00006" "{PMID:Tian 2023:36593121}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "FamXH008"
"00435417" "" "" "" "1" "" "00006" "{PMID:Tian 2023:36593121}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "FamYT558"
"00435418" "" "" "" "1" "" "00006" "{PMID:Tian 2023:36593121}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "FamYT698"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00435416" "00201"
"00435417" "00201"
"00435418" "00201"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201
## Count = 3
"{{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}}"
"0000325610" "00201" "00435416" "00006" "Familial, autosomal recessive" "" "see paper; ..., multiple morphological abnormalities sperm flagella" "" "" "" "" "" "" "" "" "male infertility"
"0000325611" "00201" "00435417" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-obstructive azoospermia" "" "" "" "" "" "" "" "" "male infertility"
"0000325612" "00201" "00435418" "00006" "Familial, autosomal recessive" "" "see paper; ..., multiple morphological abnormalities sperm flagella" "" "" "" "" "" "" "" "" "male infertility"
## 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}}"
"0000436896" "00435416" "1" "00006" "00006" "2023-07-24 16:39:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000436897" "00435417" "1" "00006" "00006" "2023-07-24 16:39:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000436898" "00435418" "1" "00006" "00006" "2023-07-24 16:39:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## 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 = 7
"{{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}}"
"0000931574" "3" "90" "12" "96986372" "96986372" "del" "0" "00006" "C12orf55_000004" "g.96986372del" "" "{PMID:Tian 2023:36593121}" "" "" "" "Germline" "" "" "0" "" "" "g.96592594del" "" "pathogenic (recessive)" ""
"0000931575" "11" "90" "12" "96912785" "96912785" "subst" "5.28893E-5" "00006" "C12orf55_000001" "g.96912785G>A" "" "{PMID:Tian 2023:36593121}" "" "" "" "Germline" "" "" "0" "" "" "g.96519007G>A" "" "pathogenic (recessive)" ""
"0000931576" "11" "90" "12" "97045378" "97045378" "subst" "8.12757E-6" "00006" "C12orf55_000005" "g.97045378C>T" "" "{PMID:Tian 2023:36593121}" "" "" "" "Germline" "" "" "0" "" "" "g.96651600C>T" "" "pathogenic (recessive)" ""
"0000931577" "21" "90" "12" "96915647" "96915647" "subst" "3.02307E-5" "00006" "C12orf55_000003" "g.96915647C>T" "" "{PMID:Tian 2023:36593121}" "" "" "" "Germline" "" "" "0" "" "" "g.96521869C>T" "" "pathogenic (recessive)" ""
"0000931578" "21" "90" "12" "96912844" "96912844" "subst" "3.05059E-5" "00006" "C12orf55_000002" "g.96912844G>A" "" "{PMID:Tian 2023:36593121}" "" "" "" "Germline" "" "" "0" "" "" "g.96519066G>A" "" "pathogenic (recessive)" ""
"0001039533" "0" "30" "12" "97102518" "97102518" "subst" "0.00115197" "01804" "C12orf55_000006" "g.97102518C>G" "" "" "" "CFAP54(NM_001306084.2):c.6661C>G (p.(Pro2221Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039534" "0" "30" "12" "97211689" "97211689" "subst" "0.000278446" "01804" "C12orf55_000007" "g.97211689G>A" "" "" "" "CFAP54(NM_001306084.2):c.9094G>A (p.(Glu3032Lys))" "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 C12orf55
## Count = 7
"{{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}}"
"0000931574" "00025841" "90" "3317" "0" "3317" "0" "c.3317del" "r.(?)" "p.(Phe1106SerfsTer19)" ""
"0000931575" "00025841" "90" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293His)" ""
"0000931576" "00025841" "90" "4885" "0" "4885" "0" "c.4885C>T" "r.(?)" "p.(Arg1629Cys)" ""
"0000931577" "00025841" "90" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319Cys)" ""
"0000931578" "00025841" "90" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Arg)" ""
"0001039533" "00025841" "30" "6661" "0" "6661" "0" "c.6661C>G" "r.(?)" "p.(Pro2221Ala)" ""
"0001039534" "00025841" "30" "9094" "0" "9094" "0" "c.9094G>A" "r.(?)" "p.(Glu3032Lys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000436896" "0000931574"
"0000436897" "0000931575"
"0000436897" "0000931577"
"0000436898" "0000931576"
"0000436898" "0000931578"