### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA0100)
# 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}}"
"KIAA0100" "KIAA0100" "17" "q11.2" "unknown" "NC_000017.10" "UD_136021470119" "" "http://www.LOVD.nl/BLTP2" "" "1" "28960" "9703" "610664" "1" "1" "1" "1" "NOTE: gene name changed from KIAA0100 to BLTP2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from KIAA0100 to BLTP2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-19 13:54:22" "00000" "2024-08-28 13:16:32"
## 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}}"
"00010481" "KIAA0100" "KIAA0100" "001" "NM_014680.3" "" "NP_055495.2" "" "" "" "-103" "7332" "6708" "26972177" "26941458" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 0
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## 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 = 6
"{{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}}"
"0000290167" "0" "50" "17" "26961754" "26961754" "subst" "2.43649E-5" "01943" "KIAA0100_000003" "g.26961754G>A" "" "" "" "KIAA0100(NM_014680.5):c.2851C>T (p.R951C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28634736G>A" "" "VUS" ""
"0000560729" "0" "30" "17" "26943213" "26943213" "subst" "6.0991E-5" "01943" "KIAA0100_000004" "g.26943213G>A" "" "" "" "KIAA0100(NM_014680.5):c.6291C>T (p.H2097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28616195G>A" "" "likely benign" ""
"0000560730" "0" "30" "17" "26966347" "26966347" "subst" "0" "01943" "KIAA0100_000005" "g.26966347C>T" "" "" "" "KIAA0100(NM_014680.5):c.1215G>A (p.K405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28639329C>T" "" "likely benign" ""
"0001003051" "0" "50" "17" "26948138" "26948138" "subst" "0" "01804" "KIAA0100_000006" "g.26948138T>C" "" "" "" "KIAA0100(NM_014680.3):c.5110A>G (p.(Ile1704Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003052" "0" "50" "17" "26951321" "26951321" "subst" "0.00096253" "01804" "KIAA0100_000007" "g.26951321C>T" "" "" "" "KIAA0100(NM_014680.3):c.4682G>A (p.(Cys1561Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003053" "0" "50" "17" "26964940" "26964940" "subst" "4.06134E-6" "01804" "KIAA0100_000008" "g.26964940G>C" "" "" "" "KIAA0100(NM_014680.3):c.1685C>G (p.(Ser562Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KIAA0100
## Count = 6
"{{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}}"
"0000290167" "00010481" "50" "2851" "0" "2851" "0" "c.2851C>T" "r.(?)" "p.(Arg951Cys)" ""
"0000560729" "00010481" "30" "6291" "0" "6291" "0" "c.6291C>T" "r.(?)" "p.(His2097=)" ""
"0000560730" "00010481" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Lys405=)" ""
"0001003051" "00010481" "50" "5110" "0" "5110" "0" "c.5110A>G" "r.(?)" "p.(Ile1704Val)" ""
"0001003052" "00010481" "50" "4682" "0" "4682" "0" "c.4682G>A" "r.(?)" "p.(Cys1561Tyr)" ""
"0001003053" "00010481" "50" "1685" "0" "1685" "0" "c.1685C>G" "r.(?)" "p.(Ser562Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0