### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C11orf63)
# 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}}"
"C11orf63"	"chromosome 11 open reading frame 63"	"11"	"q24.1"	"unknown"	"NC_000011.9"	"UD_132319539999"	""	"https://www.LOVD.nl/JHY"	""	"1"	"26288"	"79864"	"0"	"1"	"1"	"1"	"1"	"<font color=#FF0000>NOTE: gene symbol was recently changed from C11orf63 to JHY</font>.\r\nEstablishment 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"	""	"<font color=#FF0000>NOTE: gene symbol was recently changed from C11orf63 to JHY</font>."	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-05-22 17:09:27"	"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}}"
"00003960"	"C11orf63"	"transcript variant 1"	"001"	"NM_024806.2"	""	"NP_079082.2"	""	""	""	"-297"	"2614"	"2337"	"122753473"	"122830430"	""	"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 = 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/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}}"
"0000272225"	"0"	"30"	"11"	"122805602"	"122805602"	"subst"	"0"	"01943"	"C11orf63_000001"	"g.122805602C>G"	""	""	""	"C11orf63(NM_024806.3):c.1453C>G (p.L485V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.122934894C>G"	""	"likely benign"	""
"0000998826"	"0"	"30"	"11"	"122774799"	"122774799"	"subst"	"3.25312E-5"	"01804"	"C11orf63_000002"	"g.122774799A>G"	""	""	""	"C11ORF63(NM_024806.3):c.511A>G (p.(Met171Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 C11orf63
## Count = 2
"{{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}}"
"0000272225"	"00003960"	"30"	"1453"	"0"	"1453"	"0"	"c.1453C>G"	"r.(?)"	"p.(Leu485Val)"	""
"0000998826"	"00003960"	"30"	"511"	"0"	"511"	"0"	"c.511A>G"	"r.(?)"	"p.(Met171Val)"	""


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