### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SIGLEC5)
# 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}}"
"SIGLEC5"	"sialic acid binding Ig-like lectin 5"	"19"	"q13.41"	"unknown"	"NC_000019.9"	"UD_136021135885"	""	"https://www.LOVD.nl/SIGLEC5"	""	"1"	"10874"	"8778"	"604200"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-02-24 19:10:59"	"00000"	"2024-04-19 20:27:30"


## 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}}"
"00018911"	"SIGLEC5"	"sialic acid binding Ig-like lectin 5"	"001"	"NM_003830.3"	""	"NP_003821.1"	""	""	""	"-139"	"2384"	"1656"	"52133727"	"52114756"	""	"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 = 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}}"
"0000326758"	"0"	"50"	"19"	"52133270"	"52133270"	"subst"	"0.0250047"	"01804"	"SIGLEC5_000002"	"g.52133270G>T"	""	""	""	"SIGLEC5(NM_003830.3):c.237C>A (p.(Asp79Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.51630017G>T"	""	"VUS"	""
"0000568299"	"0"	"30"	"19"	"52133142"	"52133142"	"subst"	"0"	"01943"	"SIGLEC5_000003"	"g.52133142C>T"	""	""	""	"SIGLEC5(NM_003830.3):c.365G>A (p.R122K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.51629889C>T"	""	"likely benign"	""
"0000983634"	"0"	"30"	"19"	"52115500"	"52115500"	"subst"	"0.000340891"	"01804"	"SIGLEC5_000004"	"g.52115500A>G"	""	""	""	"SIGLEC5(NM_003830.4):c.1640T>C (p.(Ile547Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983635"	"0"	"50"	"19"	"52115597"	"52115597"	"subst"	"6.50713E-5"	"01804"	"SIGLEC5_000005"	"g.52115597G>A"	""	""	""	"SIGLEC5(NM_003830.4):c.1543C>T (p.(Gln515Ter))"	"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 SIGLEC5
## 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}}"
"0000326758"	"00018911"	"50"	"237"	"0"	"237"	"0"	"c.237C>A"	"r.(?)"	"p.(Asp79Glu)"	""
"0000568299"	"00018911"	"30"	"365"	"0"	"365"	"0"	"c.365G>A"	"r.(?)"	"p.(Arg122Lys)"	""
"0000983634"	"00018911"	"30"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(Ile547Thr)"	""
"0000983635"	"00018911"	"50"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Gln515*)"	""


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