### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ZEB2)
# 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}}"
"ZEB2"	"zinc finger E-box binding homeobox 2"	"2"	"q22.3"	"unknown"	"NG_016431.1"	"UD_144441791992"	""	""	""	"1"	"14881"	"9839"	"605802"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-29 16:06:38"	""	""	"00006"	"2021-09-08 11:36:17"


## Transcripts ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00000427"	"ZEB2"	"transcript variant 1"	"002"	"NM_014795.3"	""	"NP_055610.1"	""	""	""	"-522"	"8721"	"3645"	"144520391"	"144384375"	"00001"	"2021-03-29 16:06:38"	""	""
"00000428"	"ZEB2"	"transcript variant 2"	"001"	"NM_001171653.1"	""	"NP_001165124.1"	""	""	""	"-522"	"8649"	"3573"	"144520391"	"144384375"	"00001"	"2021-03-29 16:06:38"	""	""
"00000429"	"ZEB2"	"transcript variant 3"	"003"	"NR_033258.1"	""	""	""	""	""	"1"	"3008"	"3008"	"144520391"	"144511385"	"00001"	"2021-03-29 16:06:38"	""	""


## 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}}"
"00095"	"MWS"	"Mowat-Wilson Syndrome"	""	"235730"	""	""	""	"00001"	"2021-03-29 16:05:19"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ZEB2"	"00095"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000550"	""	""	""	"1"	""	"00004"	"{PMID:S Balasubramaniam et al.(2010):20428734}"	""	""	"Malaysia"	"Chinese"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000550"	"00095"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00095
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000188"	"00095"	"00000550"	"00004"	"Growth parameters below the 3rd percentile, had sparse, coarse hair, medially flared thick eyebrows, hypertelorism, a saddle nose, epicanthic folds, a pair of prominent simple ears with uplifted ear lobes, long tapered fingers and a prominent pointed chin, severe constipation during the neonatal period, hypotonic, globally delayed and dysmorphic."	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000601"	"00000550"	"1"	"00004"	"00004"	"2021-03-29 16:09:16"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000601"	"ZEB2"


## 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 = 1
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002538"	"0"	"90"	"2"	"144401194"	"144401194"	"subst"	"0"	"00004"	"ZEB2_000001"	"g.144401194C>A"	""	"{PMID:S Balasubramaniam et al.(2010):20428734}"	""	""	"rs1553127245"


## 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 ZEB2
## Count = 1
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000002538"	"00000427"	"90"	"916"	"5"	"916"	"5"	"c.916+5G>T"	"7"	"p.?"	"r.spl?"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000000601"	"0000002538"