### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FNDC1) # 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}}" "FNDC1" "fibronectin type III domain containing 1" "6" "q25" "unknown" "NC_000006.11" "UD_136019513185" "" "https://www.LOVD.nl/FNDC1" "" "1" "21184" "84624" "609991" "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/FNDC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-05 23:27:21" "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}}" "00008040" "FNDC1" "fibronectin type III domain containing 1" "001" "NM_032532.2" "" "NP_115921.2" "" "" "" "-200" "6351" "5685" "159590429" "159693140" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00016189" "" "" "" "11" "" "00671" "{PMID:Zhang 2014:24729547}" "4-generation family, 11 affected (5F, 6M)" "F;M" "no" "China" "" "0" "" "" "Chinese" "" "00296612" "" "" "" "2" "" "00006" "{PMID:Taylor 2014:25058219}" "healthy dizygotic twin pair" "F" "" "Germany" "6m" "0" "" "" "" "Pat45" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00016189" "00350" "00296612" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350 ## Count = 2 "{{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}}" "0000142766" "00350" "00016189" "00006" "Familial, autosomal dominant" "" "nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning" "" "" "" "" "" "" "" "" "DFNA-65" "hearing impairment" "" "0000224018" "00198" "00296612" "00006" "Unknown" "6m" "deceased; muscle affected; central nervous system affected; heart not affected; liver affected; Immune defect, deafness, seizures, renal failure, mtDNA depletion" "1m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" ## 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}}" "0000181308" "00016189" "1" "00006" "00006" "2018-09-05 21:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297722" "00296612" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000181308" "TBC1D24" ## 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 = 13 "{{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}}" "0000287830" "0" "50" "6" "159653762" "159653762" "subst" "0.000398287" "01943" "FNDC1_000001" "g.159653762C>T" "" "" "" "FNDC1(NM_032532.3):c.2218C>T (p.L740F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159232730C>T" "" "VUS" "" "0000287831" "0" "30" "6" "159657279" "159657279" "subst" "6.09647E-5" "01943" "FNDC1_000002" "g.159657279G>A" "" "" "" "FNDC1(NM_032532.3):c.4000G>A (p.V1334I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159236247G>A" "" "likely benign" "" "0000405001" "1" "50" "6" "159618528" "159618528" "subst" "0.000321057" "00006" "FNDC1_000003" "g.159618528T>C" "" "{PMID:Zhang 2014:24729547}" "" "" "" "Germline" "no" "" "0" "" "" "g.159197496T>C" "" "VUS" "" "0000527801" "0" "50" "6" "159650868" "159650868" "subst" "7.75219E-5" "01943" "FNDC1_000004" "g.159650868C>T" "" "" "" "FNDC1(NM_032532.3):c.1202C>T (p.P401L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159229836C>T" "" "VUS" "" "0000527802" "0" "30" "6" "159653801" "159653801" "subst" "0" "01943" "FNDC1_000005" "g.159653801A>G" "" "" "" "FNDC1(NM_032532.3):c.2257A>G (p.T753A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159232769A>G" "" "likely benign" "" "0000527803" "0" "30" "6" "159653917" "159653917" "subst" "0.000388542" "01943" "FNDC1_000006" "g.159653917C>T" "" "" "" "FNDC1(NM_032532.3):c.2373C>T (p.D791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159232885C>T" "" "likely benign" "" "0000527804" "0" "30" "6" "159654670" "159654670" "subst" "7.59616E-5" "01943" "FNDC1_000007" "g.159654670C>T" "" "" "" "FNDC1(NM_032532.3):c.3126C>T (p.R1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159233638C>T" "" "likely benign" "" "0000660380" "1" "50" "6" "159660797" "159660797" "subst" "0" "00006" "FNDC1_000009" "g.159660797A>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.159239765A>G" "" "VUS" "" "0000660381" "2" "50" "6" "159660915" "159660915" "subst" "0.0014396" "00006" "FNDC1_000010" "g.159660915C>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.159239883C>A" "" "VUS" "" "0000977073" "0" "50" "6" "159653891" "159653891" "subst" "0.000887825" "01804" "FNDC1_000011" "g.159653891G>C" "" "" "" "FNDC1(NM_032532.3):c.2347G>C (p.(Ala783Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977074" "0" "50" "6" "159672511" "159672511" "subst" "0.000300815" "01804" "FNDC1_000012" "g.159672511A>T" "" "" "" "FNDC1(NM_032532.3):c.5012A>T (p.(His1671Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995524" "0" "30" "6" "159654822" "159654822" "subst" "2.35553E-5" "01804" "FNDC1_000013" "g.159654822C>A" "" "" "" "FNDC1(NM_032532.2):c.3278C>A (p.(Ala1093Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995525" "0" "30" "6" "159660857" "159660857" "subst" "0" "01804" "FNDC1_000014" "g.159660857A>G" "" "" "" "FNDC1(NM_032532.2):c.4489A>G (p.(Thr1497Ala))" "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 FNDC1 ## Count = 13 "{{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}}" "0000287830" "00008040" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Leu740Phe)" "" "0000287831" "00008040" "30" "4000" "0" "4000" "0" "c.4000G>A" "r.(?)" "p.(Val1334Ile)" "" "0000405001" "00008040" "50" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Trp59Arg)" "" "0000527801" "00008040" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Pro401Leu)" "" "0000527802" "00008040" "30" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "0000527803" "00008040" "30" "2373" "0" "2373" "0" "c.2373C>T" "r.(?)" "p.(Asp791=)" "" "0000527804" "00008040" "30" "3126" "0" "3126" "0" "c.3126C>T" "r.(?)" "p.(Arg1042=)" "" "0000660380" "00008040" "50" "4429" "0" "4429" "0" "c.4429A>G" "r.(?)" "p.(Thr1477Ala)" "" "0000660381" "00008040" "50" "4547" "0" "4547" "0" "c.4547C>A" "r.(?)" "p.(Thr1516Asn)" "" "0000977073" "00008040" "50" "2347" "0" "2347" "0" "c.2347G>C" "r.(?)" "p.(Ala783Pro)" "" "0000977074" "00008040" "50" "5012" "0" "5012" "0" "c.5012A>T" "r.(?)" "p.(His1671Leu)" "" "0000995524" "00008040" "30" "3278" "0" "3278" "0" "c.3278C>A" "r.(?)" "p.(Ala1093Asp)" "" "0000995525" "00008040" "30" "4489" "0" "4489" "0" "c.4489A>G" "r.(?)" "p.(Thr1497Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000181308" "0000405001" "0000297722" "0000660380" "0000297722" "0000660381"