### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NTRK1)
# 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}}"
"NTRK1"	"neurotrophic receptor tyrosine kinase 1"	"1"	"q23.1"	"unknown"	"NG_007493.1"	"UD_144429055938"	""	""	""	"1"	"8031"	"4914"	"191315"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-23 10:07:16"	""	""	"00005"	"2021-08-01 13:31:30"


## 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}}"
"00000423"	"NTRK1"	"transcript variant 1"	"003"	"NM_001012331.1"	""	"NP_001012331.1"	""	""	""	"-56"	"2581"	"2373"	"156860879"	"156881850"	"00001"	"2021-03-23 10:07:16"	""	""
"00000424"	"NTRK1"	"transcript variant 2"	"002"	"NM_002529.3"	""	"NP_002520.2"	""	""	""	"-56"	"2599"	"2391"	"156860879"	"156881850"	"00001"	"2021-03-23 10:07:16"	""	""
"00000425"	"NTRK1"	"transcript variant 3"	"001"	"NM_001007792.1"	""	"NP_001007793.1"	""	""	""	"-80"	"2491"	"2283"	"156815750"	"156881850"	"00001"	"2021-03-23 10:07:16"	""	""


## 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}}"
"00092"	"CIPA"	"Congenital insensitivity to pain with anhydrosis"	""	"256800"	""	""	""	"00001"	"2021-03-23 10:05:29"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NTRK1"	"00092"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000536"	""	""	""	"1"	""	"00004"	"{PMID:A Shalimar et al.(2007):18162686}"	""	""	"Malaysia"	""	""	"M"
"00000537"	""	""	""	"1"	""	"00004"	"{PMID:A Shalimar et al.(2007):18162686}"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000536"	"00092"
"00000537"	"00092"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00092
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000180"	"00092"	"00000536"	"00004"	"insensitivity to pain, chronic eczematous skin,\r\nnon-healing ulcers, sparse hair, malunion, hyperlaxed and deformed joints, and learning disabilities"	"Familial"
"0000000181"	"00092"	"00000537"	"00004"	"insensitivity to pain, chronic eczematous skin,\r\nnon-healing ulcers, sparse hair, malunion, hyperlaxed and deformed joints, and learning disabilities"	"Familial"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000584"	"00000536"	"1"	"00004"	"00004"	"2021-03-23 10:13:52"	""	""	"PCR"	"DNA"
"0000000585"	"00000537"	"1"	"00004"	"00004"	"2021-03-23 10:29:54"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000584"	"NTRK1"
"0000000585"	"NTRK1"


## 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/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002449"	"0"	"90"	"1"	"156880095"	"156880095"	"subst"	"0"	"00004"	"NTRK1_000001"	"g.156880095G>C"	"2/6"	"{PMID:A Shalimar et al.(2007):18162686}"	"V709L"	""	"rs759190964"
"0000002450"	"0"	"90"	"1"	"156880095"	"156880095"	"subst"	"0"	"00004"	"NTRK1_000001"	"g.156880095G>C"	"3/6"	""	"V709L"	""	"rs759190964"
"0000002451"	"0"	"90"	"1"	"156880122"	"156880122"	"subst"	"0"	"00004"	"NTRK1_000002"	"g.156880122G>A"	"3/6"	"{PMID:A Shalimar et al.(2007):18162686}"	"G718S"	""	""
"0000002452"	"0"	"90"	"1"	"156880122"	"156880122"	"subst"	"0"	"00004"	"NTRK1_000002"	"g.156880122G>A"	"2/6"	"{PMID:A Shalimar et al.(2007):18162686}"	"G718S"	""	""


## 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 NTRK1
## Count = 4
"{{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}}"
"0000002449"	"00000423"	"90"	"2125"	"0"	"2125"	"0"	"c.2125G>C"	"16"	"p.(Val709Leu)"	"r.(?)"	""	""
"0000002450"	"00000423"	"90"	"2125"	"0"	"2125"	"0"	"c.2125G>C"	"16"	"p.(Val709Leu)"	"r.(?)"	""	""
"0000002451"	"00000425"	"90"	"2062"	"0"	"2062"	"0"	"c.2062G>A"	"16"	"p.(Gly688Ser)"	"r.(?)"	""	""
"0000002452"	"00000425"	"90"	"2062"	"0"	"2062"	"0"	"c.2062G>A"	"16"	"p.(Gly688Ser)"	"r.(?)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000000584"	"0000002449"
"0000000584"	"0000002451"
"0000000585"	"0000002450"
"0000000585"	"0000002452"