### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C6orf25)
# 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}}"
"C6orf25" "chromosome 6 open reading frame 25" "6" "p21" "unknown" "NC_000006.11" "UD_132085369353" "" "http://www.LOVD.nl/MPIG6B" "" "1" "13937" "80739" "606520" "1" "1" "1" "1" "NOTE: gene name changed from C6orf25 to MPIG6B\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C6orf25 to MPIG6B" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:18:41" "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}}"
"00003785" "C6orf25" "transcript variant 2" "003" "NM_138272.2" "" "NP_612116.1" "" "" "" "-40" "2362" "726" "31691121" "31694487" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"06701" "THAMY" "?Thrombocytopenia, anemia, and myelofibrosis" "AR" "617441" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C6orf25" "06701"
## 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 ##
## Note: Only showing Phenotype columns active for Diseases 06701
## 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 = 9
"{{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}}"
"0000528265" "0" "30" "6" "31692395" "31692395" "subst" "0.00647273" "01804" "C6orf25_000001" "g.31692395C>T" "" "" "" "MPIG6B(NM_138272.3):c.532C>T (p.(Pro178Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31724618C>T" "" "likely benign" ""
"0000610261" "0" "30" "6" "31691666" "31691666" "subst" "0.00997066" "01804" "C6orf25_000002" "g.31691666C>A" "" "" "" "C6orf25(NM_025260.3):c.312C>A (p.(Gly104=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31723889C>A" "" "likely benign" ""
"0000610262" "0" "50" "6" "31696299" "31696299" "subst" "0" "01943" "C6orf25_000003" "g.31696299G>A" "" "" "" "DDAH2(NM_001303007.2):c.400C>T (p.R134W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31728522G>A" "" "VUS" ""
"0000677723" "0" "30" "6" "31692386" "31692386" "subst" "0.041913" "01804" "C6orf25_000004" "g.31692386C>G" "" "" "" "C6orf25(NM_025260.3):c.523C>G (p.(Arg175Gly)), MPIG6B(NM_025260.3):c.523C>G (p.R175G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689695" "0" "50" "6" "31692533" "31692533" "subst" "7.72464E-5" "02327" "C6orf25_000005" "g.31692533C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802484" "0" "50" "6" "31691539" "31691539" "subst" "3.67209E-5" "01943" "C6orf25_000006" "g.31691539C>T" "" "" "" "MPIG6B(NM_138277.2):c.185C>T (p.P62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802485" "0" "50" "6" "31691697" "31691697" "subst" "0" "01943" "C6orf25_000007" "g.31691697G>A" "" "" "" "MPIG6B(NM_138277.2):c.343G>A (p.E115K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912448" "0" "30" "6" "31692793" "31692793" "subst" "4.15138E-6" "02326" "C6orf25_000008" "g.31692793G>A" "" "" "" "MPIG6B(NM_025260.3):c.687G>A (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929167" "0" "10" "6" "31692386" "31692386" "subst" "0.041913" "02326" "C6orf25_000004" "g.31692386C>G" "" "" "" "C6orf25(NM_025260.3):c.523C>G (p.(Arg175Gly)), MPIG6B(NM_025260.3):c.523C>G (p.R175G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 C6orf25
## Count = 9
"{{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}}"
"0000528265" "00003785" "30" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" ""
"0000610261" "00003785" "30" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Gly104=)" ""
"0000610262" "00003785" "50" "4174" "0" "4174" "0" "c.*3448G>A" "r.(=)" "p.(=)" ""
"0000677723" "00003785" "30" "523" "0" "523" "0" "c.523C>G" "r.(?)" "p.(Arg175Gly)" ""
"0000689695" "00003785" "50" "542" "-9" "542" "-9" "c.542-9C>G" "r.(=)" "p.(=)" ""
"0000802484" "00003785" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" ""
"0000802485" "00003785" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Glu115Lys)" ""
"0000912448" "00003785" "30" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" ""
"0000929167" "00003785" "10" "523" "0" "523" "0" "c.523C>G" "r.(?)" "p.(Arg175Gly)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0