### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IDUA)
# 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}}"	"{{allow_index_wiki}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{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}}"
"IDUA"	"iduronidase, alpha-L-"	"4"	"p16.3"	"unknown"	"NG_008103.1"	"UD_144476118058"	""	"https://ghr.nlm.nih.gov/gene/IDUA"	""	"1"	"1"	"5391"	"3425"	"252800"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00002"	"2018-12-16 14:26:58"	""	""	"00002"	"2018-12-16 16:20:01"


## 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}}"
"00000001"	"IDUA"	"iduronidase, alpha-L-"	"001"	"NM_000203.3"	""	"NP_000194.2"	""	""	""	"-88"	"2098"	"1962"	"980785"	"998317"	"00002"	"2018-12-16 14:26:58"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00001"	"MPS-I"	"Mucopolysaccharidosis type I"	"607015"	"face"	"Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as \"coarse,\" an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea)."	"This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types."	"00002"	"2018-12-16 14:24:47"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"IDUA"	"00001"


## 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 = 1
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{mapping_flags}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/Variant_name}}"	"{{VariantOnGenome/Clinical_significance}}"	"{{VariantOnGenome/Evidences}}"	"{{VariantOnGenome/Variant_frequency}}"
"0000000002"	"0"	"99"	"4"	"997222"	"997222"	"del"	"0"	""	"00002"	"9"	"00002"	"2018-12-16 16:20:01"	""	""	"g.997222delG"	"{PMID:Scott et al. (1993):8213840}"	"rs727503967"	"delG1702"	"Pathogenic"	"External source reports variant as pathogenic or likely pathogenic"	"Multiple cases"


## 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.
## Count = 1
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"
"0000000002"	"00000001"	"99"	"1614"	"0"	"1614"	"0"	"c.1614delG"	"p.(His539Thrfs*21)"	"r.(?)"


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