### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PIGF)
# 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}}"
"PIGF"	"phosphatidylinositol glycan anchor biosynthesis, class F"	"2"	"p21-p16"	"unknown"	"NC_000002.11"	"UD_134711662180"	""	""	""	"1"	"8962"	"5281"	"600153"	"1"	"1"	"1"	"1"	""	""	"g"	"https://databases.lovd.nl/shared/refseq/PIGF_codingDNA.html"	"1"	""	""	"0"	""	"0"	"00001"	"2013-05-03 00:00:00"	"00081"	"2018-12-31 00:37:59"	"00006"	"2024-01-23 18:13:56"


## 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}}"
"00025664"	"PIGF"	"transcript variant 1"	"001"	"NM_002643.3"	""	"NP_002634.1"	""	""	""	"-164"	"864"	"660"	"46844251"	"46808413"	"00006"	"2021-12-15 11:11:59"	""	""


## 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 = 1
"{{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}}"
"00396202"	""	""	""	"1"	""	"00006"	"{PMID:Leduc 2016:27250922}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	"African-American"	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00396202"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 1
"{{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}}"
"0000289368"	"00198"	"00396202"	"00006"	"Familial, autosomal recessive"	"04y"	"see paper; ..., postnatal growth retardation, global developmental delay, frontal bossing, high forehead, sparse hair, sparse eyebrows; high myopia, admixed hyper- and hypopigmented macules face, arms, and legs, bilateral syndactyly 4–5 toes"	""	""	""	""	""	""	""	""	"SSMCF"	"global developmental delay"	""


## 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}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000397442"	"00396202"	"1"	"00006"	"00006"	"2021-12-15 11:05:14"	"00006"	"2021-12-15 11:10:40"	"arrayCGH;PCR;SEQ"	"DNA"	""	""


## 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}}"
"0000516078"	"0"	"30"	"2"	"46839434"	"46839434"	"subst"	"0.00203905"	"01804"	"CRIPT_000003"	"g.46839434T>C"	""	""	""	"PIGF(NM_002643.3):c.370A>G (p.(Thr124Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46612295T>C"	""	"likely benign"	""
"0000607981"	"0"	"30"	"2"	"46842119"	"46842119"	"subst"	"0.00852085"	"01804"	"CRIPT_000004"	"g.46842119A>G"	""	""	""	"PIGF(NM_002643.3):c.185T>C (p.(Val62Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46614980A>G"	""	"likely benign"	""
"0000829416"	"11"	"90"	"2"	"46844000"	"46845330"	"del"	"0"	"00006"	"CRIPT_000007"	"g.46844000_46845330del"	""	"{PMID:Leduc 2016:27250922}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46616861_46618191del"	""	"pathogenic (recessive)"	""
"0000829418"	"0"	"50"	"2"	"27600408"	"62081181"	"dup"	"0"	"00000"	"FSHR_000025"	"g.27600408_62081181dup"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr2:27600408–62081181"	""	"Germline"	""	""	"0"	""	""	""	""	"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 PIGF
## 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}}"
"0000516078"	"00025664"	"30"	"370"	"0"	"370"	"0"	"c.370A>G"	"r.(?)"	"p.(Thr124Ala)"	""
"0000607981"	"00025664"	"30"	"185"	"0"	"185"	"0"	"c.185T>C"	"r.(?)"	"p.(Val62Ala)"	""
"0000829416"	"00025664"	"90"	"0"	"0"	"0"	"0"	"c.-164_-22+109{0}"	"r.0?"	"p.0?"	"_1_1i"
"0000829418"	"00025664"	"50"	"-8388608"	"0"	"8388607"	"0"	"c.-15237094_*19208209dup"	"r.0?"	"p.0?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000397442"	"0000829416"