### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FIBCD1) # 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}}" "FIBCD1" "fibrinogen C domain containing 1" "9" "q34.2" "unknown" "NC_000009.11" "UD_134026640817" "" "https://www.LOVD.nl/FIBCD1" "" "1" "25922" "84929" "613357" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-17 12:10:41" "00006" "2022-08-19 12:23:52" ## 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}}" "00007955" "FIBCD1" "transcript variant 1" "002" "NM_032843.4" "" "NP_116232.3" "" "" "" "-245" "3012" "1386" "133814239" "133777825" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FIBCD1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00415949" "" "" "" "1" "" "00006" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "white" "Pat1" "00415950" "" "" "" "1" "" "00006" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00415949" "05611" "00415950" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000307720" "05611" "00415949" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe autism spectrum disorder, borderline delayed cognition, anxiety, attention-deficit/hyperactivity disorder combined type; normal sit, normal walk; no speech, no epilepsy; high pain tolerance, sensitive touch; fine motor coordination deficits; triangular shaped head, hypertelorism, almond-shaped eyes, posteriorly rotated ears, low set ears, epicanthal folds; allergic rhinitis, sinusitis" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000307721" "05611" "00415950" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., severe neurodevelopmental delay, delayed social/cognitive abilities; delayed sit, delayed walk; no speech; no epilepsy; MRI slightly thickened cortex, decreased white matter volume, ventriculomegaly, bilateral enlarged frontal gyri; microcephaly, micrognathia, low set ears; patent ductus arteriosus, resolved at 6m; recurrent pneumonia; no immunological anomalies" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000417229" "00415949" "1" "00006" "00006" "2022-08-19 10:27:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417230" "00415950" "1" "00006" "00006" "2022-08-19 10:38:34" "" "" "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 = 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}}" "0000876825" "21" "70" "9" "133805421" "133805421" "subst" "0" "00006" "FIBCD1_000001" "g.133805421C>T" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Germline" "" "" "0" "" "" "g.130930034C>T" "" "VUS" "" "0000876826" "21" "70" "9" "133779621" "133779621" "subst" "3.66378E-5" "00006" "FIBCD1_000002" "g.133779621G>A" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Germline" "" "" "0" "" "" "g.130904234G>A" "" "VUS" "" "0000876828" "21" "70" "9" "133779470" "133779470" "subst" "6.13382E-5" "00006" "FIBCD1_000003" "g.133779470G>A" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Germline" "" "" "0" "" "" "g.130904083G>A" "" "VUS" "" "0000876829" "21" "70" "9" "133779470" "133779470" "subst" "6.13382E-5" "00006" "FIBCD1_000003" "g.133779470G>A" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.130904083G>A" "" "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 FIBCD1 ## 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}}" "0000876825" "00007955" "70" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Gly29Ser)" "" "0000876826" "00007955" "70" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Arg406Cys)" "" "0000876828" "00007955" "70" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Pro456Leu)" "" "0000876829" "00007955" "70" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Pro456Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000417229" "0000876825" "0000417229" "0000876826" "0000417230" "0000876828" "0000417230" "0000876829"