### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GTF3C1)
# 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}}"
"GTF3C1"	"general transcription factor IIIC, polypeptide 1, alpha 220kDa"	"16"	"p12"	"unknown"	"NC_000016.9"	"UD_132462931799"	""	"https://www.LOVD.nl/GTF3C1"	""	"1"	"4664"	"2975"	"603246"	"1"	"1"	"1"	"1"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-01-12 19:10:16"	"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}}"
"00009042"	"GTF3C1"	"general transcription factor IIIC, polypeptide 1, alpha 220kDa"	"001"	"NM_001520.3"	""	"NP_001511.2"	""	""	""	"-40"	"7067"	"6330"	"27561251"	"27471934"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"


## 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}}"
"00050458"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050683"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00150203"	""	""	""	"2"	""	"00006"	"{PMID:Karaca 2015:26539891}"	""	""	""	""	""	"0"	"family structure in paper"	""	""	"26539891-FamBAB5013"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00050458"	"00198"
"00050683"	"00198"
"00150203"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## 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}}"
"0000037070"	"00198"	"00050458"	"00006"	"Isolated (sporadic)"	""	"microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior"	""	""	""	""	""	""	""	""	""	""	""
"0000037295"	"00198"	"00050683"	"00006"	"Unknown"	""	"microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development"	""	""	""	""	""	""	""	""	""	""	""
"0000122605"	"00198"	"00150203"	"00006"	"Unknown"	""	"intellectual diability, cerebral atrophy, CCH, strabismus, elevated TSH"	""	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000050403"	"00050458"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050628"	"00050683"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000151058"	"00150203"	"1"	"00006"	"00006"	"2018-01-13 12:41:38"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000151058"	"GTF3C1"


## 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}}"
"0000079383"	"0"	"90"	"16"	"21530207"	"29332245"	"del"	"0"	"00006"	"CLN3_000009"	"g.21530207_29332245del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.21518886_29320924del"	""	"pathogenic"	""
"0000079608"	"0"	"90"	"16"	"27183151"	"31888684"	"dup"	"0"	"00006"	"CLN3_000010"	"g.27183151_31888684dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"mosaicism, copy number 3 in 0.33  cells"	"Somatic"	""	""	"0"	""	""	"g.27171830_31877363dup"	""	"pathogenic"	""
"0000244224"	"3"	"90"	"16"	"27492500"	"27492500"	"subst"	"0"	"00006"	"GTF3C1_000001"	"g.27492500C>T"	""	"{PMID:Karaca 2015:26539891}"	""	"NM_001520: c.G4096A; p.E1366K"	""	"Germline"	""	""	"0"	""	""	"g.27481179C>T"	""	"pathogenic"	""
"0000807301"	"0"	"30"	"16"	"27561513"	"27561513"	"del"	"0"	"02326"	"GTF3C1_000006"	"g.27561513del"	""	""	""	"KIAA0556(NM_015202.3):c.7+15delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981807"	"0"	"50"	"16"	"27499629"	"27499629"	"subst"	"5.68505E-5"	"02325"	"GTF3C1_000007"	"g.27499629G>A"	""	""	""	"GTF3C1(NM_001520.4):c.3619C>T (p.R1207W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981808"	"0"	"50"	"16"	"27509056"	"27509056"	"subst"	"0"	"02325"	"GTF3C1_000008"	"g.27509056G>C"	""	""	""	"GTF3C1(NM_001520.4):c.2252C>G (p.S751C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040992"	"0"	"30"	"16"	"27475848"	"27475848"	"subst"	"0.00292978"	"01804"	"GTF3C1_000009"	"g.27475848G>C"	""	""	""	"GTF3C1(NM_001520.4):c.5665C>G (p.(Gln1889Glu))"	"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 GTF3C1
## 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}}"
"0000079383"	"00009042"	"00"	"-1771034"	"0"	"5948794"	"0"	"c.-1771034_*5942464del"	"r.0?"	"p.0?"	""
"0000079608"	"00009042"	"00"	"-4327473"	"0"	"295850"	"0"	"c.-4327473_*289520dup"	""	""	""
"0000244224"	"00009042"	"90"	"4096"	"0"	"4096"	"0"	"c.4096G>A"	"r.(?)"	"p.(Glu1366Lys)"	""
"0000807301"	"00009042"	"30"	"-300"	"0"	"-300"	"0"	"c.-300del"	"r.(?)"	"p.(=)"	""
"0000981807"	"00009042"	"50"	"3619"	"0"	"3619"	"0"	"c.3619C>T"	"r.(?)"	"p.(Arg1207Trp)"	""
"0000981808"	"00009042"	"50"	"2252"	"0"	"2252"	"0"	"c.2252C>G"	"r.(?)"	"p.(Ser751Cys)"	""
"0001040992"	"00009042"	"30"	"5665"	"0"	"5665"	"0"	"c.5665C>G"	"r.(?)"	"p.(Gln1889Glu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000050403"	"0000079383"
"0000050628"	"0000079608"
"0000151058"	"0000244224"