### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IGF2BP1)
# 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}}"
"IGF2BP1"	"insulin-like growth factor 2 mRNA binding protein 1"	"17"	"q21.32"	"unknown"	"NG_030585.1"	"UD_134408554545"	""	"https://www.LOVD.nl/IGF2BP1"	""	"1"	"28866"	"10642"	"608288"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/IGF2BP1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-11-11 00:00:00"	"00006"	"2017-07-04 20:29:07"	"00000"	"2024-04-19 20:27:30"


## 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}}"
"00009869"	"IGF2BP1"	"transcript variant 1"	"001"	"NM_006546.3"	""	"NP_006537.3"	""	""	""	"-334"	"8435"	"1734"	"47074774"	"47133507"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 0


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 0


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Phenotypes ## Do not remove or alter this header ##
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 0


## 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}}"
"0000346648"	"0"	"50"	"17"	"47117365"	"47117365"	"subst"	"0"	"02327"	"IGF2BP1_000001"	"g.47117365A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49040003A>T"	""	"VUS"	""
"0000562111"	"0"	"30"	"17"	"47117430"	"47117430"	"subst"	"0.0065751"	"01804"	"IGF2BP1_000002"	"g.47117430T>A"	""	""	""	"IGF2BP1(NM_006546.3):c.795T>A (p.(His265Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49040068T>A"	""	"likely benign"	""
"0000680911"	"0"	"50"	"17"	"47119715"	"47119715"	"subst"	"0"	"01943"	"IGF2BP1_000003"	"g.47119715T>G"	""	""	""	"IGF2BP1(NM_006546.3):c.1053T>G (p.Y351*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982585"	"0"	"30"	"17"	"47126752"	"47126752"	"subst"	"0.00206511"	"01804"	"IGF2BP1_000004"	"g.47126752T>A"	""	""	""	"IGF2BP1(NM_006546.4):c.1680T>A (p.(Val560=))"	"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 IGF2BP1
## 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}}"
"0000346648"	"00009869"	"50"	"730"	"0"	"730"	"0"	"c.730A>T"	"r.(?)"	"p.(Ile244Phe)"	""
"0000562111"	"00009869"	"30"	"795"	"0"	"795"	"0"	"c.795T>A"	"r.(?)"	"p.(His265Gln)"	""
"0000680911"	"00009869"	"50"	"1053"	"0"	"1053"	"0"	"c.1053T>G"	"r.(?)"	"p.(Tyr351Ter)"	""
"0000982585"	"00009869"	"30"	"1680"	"0"	"1680"	"0"	"c.1680T>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0