### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PHEX)
# 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}}"
"PHEX"	"phosphate regulating endopeptidase homolog X-linked"	"X"	"p22.11"	"unknown"	"NG_007563.2"	"UD_144430954564"	""	""	""	"1"	"8918"	"5251"	"300550"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-24 13:00:42"	""	""	"00005"	"2021-08-29 11:00:21"


## 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}}"
"00000082"	"PHEX"	"transcript variant 1"	"002"	"NM_000444.5"	""	"NP_000435.3"	""	""	""	"-562"	"5607"	"2250"	"22032444"	"22251310"	"00001"	"2020-12-24 13:00:42"	""	""


## 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}}"
"00049"	"HR"	"Hypophosphataemic  rickets"	""	""	""	""	""	"00001"	"2020-12-24 12:50:25"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PHEX"	"00049"


## 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}}"
"00000299"	""	""	""	"1"	""	"00002"	"Nurul Nadirah Razali et al. 2019 (//www.researchgate.net/publication/338207897)"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000299"	"00049"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00049
## Count = 0


## 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}}"
"0000000314"	"00000299"	"1"	"00002"	"00002"	"2020-12-24 16:00:45"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000314"	"PHEX"


## 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 = 2
"{{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}}"
"0000001443"	"0"	"00"	"X"	"22033015"	"22033015"	"subst"	"0"	"00002"	"PHEX_000001"	"g.22033015G>C"	"1/2"	"{dbSNP:rs147859619}, {ClinVar:225437}"	""	""	"rs147859619"
"0000001444"	"0"	"70"	"X"	"22227511"	"22227511"	"subst"	"0"	"00002"	"PHEX_000002"	"g.22227511A>G"	"1/2"	"{dbSNP:rs193922721},{ClinVar:36790}"	"Y657C"	""	"rs193922721"


## 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 PHEX
## Count = 2
"{{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/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001443"	"00000082"	"00"	"10"	"0"	"10"	"0"	"c.10G>C"	""	"p.(Glu4Gln)"	"r.(?)"	""	""	"{ClinVar:225437}"
"0000001444"	"00000082"	"70"	"1970"	"0"	"1970"	"0"	"c.1970A>G"	""	"p.(Tyr657Cys)"	"r.(?)"	""	""	"{ClinVar: 36790}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000314"	"0000001443"
"0000000314"	"0000001444"