### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GFER) # 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}}" "GFER" "growth factor, augmenter of liver regeneration" "16" "p13.3-p13.12" "unknown" "NC_000016.9" "UD_138385374680" "" "" "" "1" "1" "4236" "2671" "600924" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "00000139" "GFER" "growth factor, augmenter of liver regeneration" "001" "NM_005262.2" "" "NP_005253.3" "" "" "" "-70" "2339" "618" "2034150" "2037750" "00001" "2013-11-07 13:49:16" "" "" "" "16" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00045" "613076" "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)" "613076" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GFER" "00045" ## 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 = 5 "{{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}}" "0000000614" "0" "99" "16" "2035992" "2035992" "subst" "35" "0.000153894" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-02 05:04:00" "GFER_000001" "g.2035992G>A" "" "{PMID:19409522:19409522}" "" "rs121908192" "subst" "0" "; clinVar; Ensembl;" "4.430" "" "" "" "" "MSCV_0000614" "" "0000017790" "0" "00" "16" "2034416" "2034416" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:23" "GFER_000002" "g.2034416del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017790" "" "0000017791" "0" "99" "16" "2035992" "2035992" "subst" "35" "0.000153894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:24" "GFER_000001" "g.2035992G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000614" "" "0000017792" "0" "99" "16" "2035997" "2035997" "subst" "35" "0.000153894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:25" "GFER_000003" "g.2035997C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017792" "" "0000025170" "0" "00" "16" "2034434" "2034434" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:47" "GFER_000004" "g.2034434del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 5 "{{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}}" "0000000614" "00000139" "99" "581" "0" "581" "0" "c.581G>A" "3/3" "p.(Arg194His)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000017790" "00000139" "00" "197" "0" "197" "0" "c.197del" "" "p.(Arg67Glyfs*83)" "r.(?)" "" "" "" "" "" "-" "0000017791" "00000139" "00" "581" "0" "581" "0" "c.581G>A" "" "p.(Arg194His)" "r.(?)" "" "" "" "" "" "-" "0000017792" "00000139" "00" "586" "0" "586" "0" "c.586C>T" "" "p.(Arg196Cys)" "r.(?)" "" "" "" "" "" "-" "0000025170" "00000139" "00" "215" "0" "215" "0" "c.215del" "" "p.(Ala73Profs*77)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0