### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CROCC) # 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}}" "CROCC" "ciliary rootlet coiled-coil, rootletin" "1" "p36.13" "unknown" "NC_000001.10" "UD_132455646612" "" "https://www.LOVD.nl/CROCC" "" "1" "21299" "9696" "615776" "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/CROCC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-24 08:18:30" "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}}" "00005694" "CROCC" "ciliary rootlet coiled-coil, rootletin" "001" "NM_014675.3" "" "NP_055490.3" "" "" "" "-69" "6587" "6054" "17248445" "17299474" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00170827" "" "" "" "1" "" "00006" "{PMID:Ito 2018:29961568}, {DOI:Ito 2018:10.1016/j.ajhg.2018.06.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Canada" "" "0" "" "" "" "29961568-FamPat1" "00327463" "" "" "" "2" "" "03980" "Doucette 2021, Submitted" "Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern." "F" "" "Canada" "" "" "Yes" "" "Middle eastern origin" "M69 II-1" "00448022" "" "" "" "1" "" "00006" "{PMID:Carss 2017:28041643}" "patient" "M" "" "" "" "0" "" "" "Europe" "G008152" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00170827" "00198" "00327463" "04250" "00448022" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 04250 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000135687" "00198" "00170827" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability, seizures" "" "0000245752" "05412" "00327463" "03980" "Familial, autosomal recessive" "29y" "Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000337211" "04214" "00448022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## 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}}" "0000171708" "00170827" "1" "00006" "00006" "2018-07-23 23:24:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000328676" "00327463" "1" "03980" "03980" "2021-01-21 22:19:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000449595" "00448022" "1" "00006" "00006" "2024-02-09 18:12:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000171708" "WASF1" ## 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 = 30 "{{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}}" "0000274438" "0" "50" "1" "17265536" "17265536" "subst" "0" "01943" "CROCC_000001" "g.17265536C>G" "" "" "" "CROCC(NM_014675.5):c.1507C>G (p.R503G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16939041C>G" "" "VUS" "" "0000320575" "0" "50" "1" "17295610" "17295610" "subst" "0" "01804" "CROCC_000002" "g.17295610G>A" "" "" "" "CROCC(NM_014675.3):c.5077-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16969115G>A" "" "VUS" "" "0000320577" "0" "30" "1" "17301446" "17301446" "subst" "0.00356129" "01804" "MFAP2_000001" "g.17301446G>C" "" "" "" "MFAP2(NM_001135247.1):c.518C>G (p.(Ala173Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16974951G>C" "" "likely benign" "" "0000392010" "21" "50" "1" "17281987" "17281987" "subst" "0" "00006" "CROCC_000004" "g.17281987C>T" "" "{PMID:Ito 2018:29961568}, {DOI:Ito 2018:10.1016/j.ajhg.2018.06.001}" "" "" "variant not linked to phenotype" "Germline" "" "" "0" "" "" "g.16955492C>T" "" "VUS" "" "0000392011" "11" "50" "1" "17296892" "17296892" "subst" "0.000137728" "00006" "CROCC_000005" "g.17296892C>T" "" "{PMID:Ito 2018:29961568}, {DOI:Ito 2018:10.1016/j.ajhg.2018.06.001}" "" "" "variant not linked to phenotype" "Germline" "" "" "0" "" "" "g.16970397C>T" "" "VUS" "" "0000504236" "0" "30" "1" "17256850" "17256850" "subst" "0.0207992" "01804" "CROCC_000006" "g.17256850C>T" "" "" "" "CROCC(NM_014675.3):c.683+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16930355C>T" "" "likely benign" "" "0000504243" "0" "30" "1" "17266424" "17266424" "subst" "5.71867E-5" "01943" "CROCC_000008" "g.17266424A>G" "" "" "" "CROCC(NM_014675.5):c.1644A>G (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16939929A>G" "" "likely benign" "" "0000504244" "0" "30" "1" "17277539" "17277539" "subst" "8.40047E-5" "01943" "CROCC_000009" "g.17277539T>C" "" "" "" "CROCC(NM_014675.5):c.2928T>C (p.A976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16951044T>C" "" "likely benign" "" "0000604987" "0" "30" "1" "17270727" "17270727" "subst" "0" "01943" "CROCC_000010" "g.17270727G>A" "" "" "" "CROCC(NM_014675.5):c.1941G>A (p.Q647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16944232G>A" "" "likely benign" "" "0000675540" "0" "30" "1" "17287612" "17287612" "subst" "0.00997765" "01804" "CROCC_000011" "g.17287612C>G" "" "" "" "CROCC(NM_014675.3):c.4392C>G (p.(Asp1464Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712651" "0" "50" "1" "17295771" "17295771" "subst" "0.00461874" "03980" "CROCC_000012" "g.17295771G>A" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs139786167" "" "" "" "" "{CV:291191}" "VUS" "" "0000712652" "0" "50" "1" "17297132" "17297132" "subst" "0.00294047" "03980" "CROCC_000003" "g.17297132T>C" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs145138931" "" "" "" "" "" "VUS" "" "0000798902" "0" "30" "1" "17256382" "17256382" "subst" "0" "01943" "CROCC_000013" "g.17256382G>A" "" "" "" "CROCC(NM_014675.5):c.393G>A (p.T131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798904" "0" "50" "1" "17281850" "17281850" "subst" "3.41111E-5" "01943" "CROCC_000014" "g.17281850G>A" "" "" "" "CROCC(NM_014675.5):c.3509G>A (p.R1170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798905" "0" "30" "1" "17295668" "17295668" "subst" "8.45666E-5" "01943" "CROCC_000015" "g.17295668G>A" "" "" "" "CROCC(NM_014675.5):c.5134G>A (p.G1712R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960011" "3" "70" "1" "17292217" "17292217" "subst" "0" "00006" "CROCC_000016" "g.17292217G>A" "" "{PMID:Carss 2017:28041643}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.16965722G>A" "" "VUS" "" "0000990554" "0" "50" "1" "17266533" "17266533" "subst" "0.000855207" "01804" "CROCC_000017" "g.17266533G>A" "" "" "" "CROCC(NM_014675.3):c.1753G>A (p.(Glu585Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031469" "0" "50" "1" "17249200" "17249200" "subst" "0.000635857" "01804" "CROCC_000018" "g.17249200G>A" "" "" "" "CROCC(NM_014675.5):c.103G>A (p.(Ala35Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031470" "0" "50" "1" "17249219" "17249219" "subst" "0.000528877" "01804" "CROCC_000019" "g.17249219A>G" "" "" "" "CROCC(NM_014675.5):c.122A>G (p.(Asp41Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031471" "0" "50" "1" "17257080" "17257080" "subst" "0.000673375" "01804" "CROCC_000020" "g.17257080C>T" "" "" "" "CROCC(NM_014675.5):c.840C>T (p.(Arg280=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031472" "0" "50" "1" "17263230" "17263230" "subst" "0.00134911" "01804" "CROCC_000021" "g.17263230G>A" "" "" "" "CROCC(NM_014675.5):c.1055G>A (p.(Arg352Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031473" "0" "50" "1" "17265567" "17265567" "subst" "0.0014166" "01804" "CROCC_000022" "g.17265567C>T" "" "" "" "CROCC(NM_014675.5):c.1538C>T (p.(Pro513Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031474" "0" "30" "1" "17266383" "17266383" "subst" "0.00158018" "01804" "CROCC_000023" "g.17266383C>A" "" "" "" "CROCC(NM_014675.5):c.1609-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031475" "0" "50" "1" "17266482" "17266482" "subst" "0.000615713" "01804" "CROCC_000024" "g.17266482G>A" "" "" "" "CROCC(NM_014675.5):c.1702G>A (p.(Glu568Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031476" "0" "50" "1" "17270624" "17270624" "subst" "0.000492338" "01804" "CROCC_000025" "g.17270624A>G" "" "" "" "CROCC(NM_014675.5):c.1838A>G (p.(Gln613Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031477" "0" "50" "1" "17279950" "17279950" "subst" "5.82629E-5" "01804" "CROCC_000026" "g.17279950C>A" "" "" "" "CROCC(NM_014675.5):c.3160C>A (p.(Leu1054Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031478" "0" "30" "1" "17280746" "17280746" "subst" "0.000113916" "01804" "CROCC_000027" "g.17280746C>T" "" "" "" "CROCC(NM_014675.5):c.3215C>T (p.(Thr1072Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031479" "0" "50" "1" "17285215" "17285215" "subst" "5.58687E-5" "01804" "CROCC_000028" "g.17285215C>T" "" "" "" "CROCC(NM_014675.5):c.4002C>T (p.(Gly1334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031480" "0" "50" "1" "17295816" "17295816" "subst" "2.48018E-5" "01804" "CROCC_000029" "g.17295816A>G" "" "" "" "CROCC(NM_014675.5):c.5282A>G (p.(His1761Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031481" "0" "30" "1" "17296833" "17296833" "subst" "0.000654485" "01804" "CROCC_000030" "g.17296833G>A" "" "" "" "CROCC(NM_014675.5):c.5537G>A (p.(Arg1846His))" "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 CROCC ## Count = 30 "{{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}}" "0000274438" "00005694" "50" "1507" "0" "1507" "0" "c.1507C>G" "r.(?)" "p.(Arg503Gly)" "" "0000320575" "00005694" "50" "5077" "-1" "5077" "-1" "c.5077-1G>A" "r.spl?" "p.?" "" "0000320577" "00005694" "30" "8559" "0" "8559" "0" "c.*2505G>C" "r.(=)" "p.(=)" "" "0000392010" "00005694" "50" "3646" "0" "3646" "0" "c.3646C>T" "r.(?)" "p.(Arg1216Trp)" "" "0000392011" "00005694" "50" "5596" "0" "5596" "0" "c.5596C>T" "r.(?)" "p.(Arg1866Cys)" "" "0000504236" "00005694" "30" "683" "8" "683" "8" "c.683+8C>T" "r.(=)" "p.(=)" "" "0000504243" "00005694" "30" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(Leu548=)" "" "0000504244" "00005694" "30" "2928" "0" "2928" "0" "c.2928T>C" "r.(?)" "p.(Ala976=)" "" "0000604987" "00005694" "30" "1941" "0" "1941" "0" "c.1941G>A" "r.(?)" "p.(Gln647=)" "" "0000675540" "00005694" "30" "4392" "0" "4392" "0" "c.4392C>G" "r.(?)" "p.(Asp1464Glu)" "" "0000712651" "00005694" "50" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "0000712652" "00005694" "50" "5654" "0" "5654" "0" "c.5654T>C" "r.(?)" "p.(Val1885Ala)" "" "0000798902" "00005694" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Thr131=)" "" "0000798904" "00005694" "50" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0000798905" "00005694" "30" "5134" "0" "5134" "0" "c.5134G>A" "r.(?)" "p.(Gly1712Arg)" "" "0000960011" "00005694" "70" "4406" "-1" "4406" "-1" "c.4406-1G>A" "r.spl" "p.?" "" "0000990554" "00005694" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Glu585Lys)" "" "0001031469" "00005694" "50" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Ala35Thr)" "" "0001031470" "00005694" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Asp41Gly)" "" "0001031471" "00005694" "50" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(=)" "" "0001031472" "00005694" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0001031473" "00005694" "50" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Pro513Leu)" "" "0001031474" "00005694" "30" "1609" "-6" "1609" "-6" "c.1609-6C>A" "r.(=)" "p.(=)" "" "0001031475" "00005694" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Glu568Lys)" "" "0001031476" "00005694" "50" "1838" "0" "1838" "0" "c.1838A>G" "r.(?)" "p.(Gln613Arg)" "" "0001031477" "00005694" "50" "3160" "0" "3160" "0" "c.3160C>A" "r.(?)" "p.(Leu1054Ile)" "" "0001031478" "00005694" "30" "3215" "0" "3215" "0" "c.3215C>T" "r.(?)" "p.(Thr1072Met)" "" "0001031479" "00005694" "50" "4002" "0" "4002" "0" "c.4002C>T" "r.(?)" "p.(=)" "" "0001031480" "00005694" "50" "5282" "0" "5282" "0" "c.5282A>G" "r.(?)" "p.(His1761Arg)" "" "0001031481" "00005694" "30" "5537" "0" "5537" "0" "c.5537G>A" "r.(?)" "p.(Arg1846His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000171708" "0000392010" "0000171708" "0000392011" "0000328676" "0000712651" "0000328676" "0000712652" "0000449595" "0000960011"