### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM126A) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "FAM126A" "family with sequence similarity 126, member A" "7" "p15.3" "unknown" "NG_008392.1" "UD_139399367919" "" "" "" "1" "1" "24587" "84668" "610531" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:57:03" "" "" "00000" "2014-04-18 18:57:03" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003239" "FAM126A" "family with sequence similarity 126, member A" "001" "NM_032581.3" "" "NP_115970.2" "" "" "" "-255" "5896" "1566" "22980878" "23053770" "00000" "2014-04-18 18:57:03" "" "" "" "" ## 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}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000003349" "0" "99" "7" "23016959" "23016959" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-18 21:24:23" "FAM126A_000003" "g.23016959C>A" "" "{PMID:16951682:16951682};{PMID:20301737:20301737};{PMID:21911699:21911699}" "" "rs72549406" "subst" "0" "; clinvar;" "5.850" "" "" "" "" "MSCV_0003349" "" "0000003350" "0" "99" "7" "23016959" "23016959" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-18 22:40:10" "FAM126A_000004" "g.23016959C>G" "" "{PMID:16951682:16951682};{PMID:20301737:20301737};{PMID:21911699:21911699}" "" "rs72549406" "subst" "0" "; clinvar;" "5.850" "" "" "" "" "MSCV_0003350" "" "0000003351" "0" "99" "7" "23018063" "23018063" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-18 23:21:19" "FAM126A_000001" "g.23018063A>G" "" "{PMID:20301737:20301737};{PMID:16951682:16951682}" "" "rs72549407" "subst" "0" "; clinvar;" "5.860" "" "" "" "" "MSCV_0003351" "" "0000003352" "0" "99" "7" "23030679" "23030679" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-18 22:06:24" "FAM126A_000002" "g.23030679C>T" "" "{PMID:16951682:16951682};{PMID:20301737:20301737}" "" "rs72549405" "subst" "0" "; clinvar;" "5.730" "" "" "" "" "MSCV_0003352" "" ## 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. ## 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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000003349" "00003239" "99" "414" "1" "414" "1" "c.414+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003350" "00003239" "99" "414" "1" "414" "1" "c.414+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003351" "00003239" "99" "158" "0" "158" "0" "c.158T>C" "4/12" "p.(Leu53Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000003352" "00003239" "99" "51" "1" "51" "1" "c.51+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0