### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GDF6) # 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}}" "GDF6" "growth differentiation factor 6" "8" "q22.1" "unknown" "NC_000008.10" "UD_132085343536" "" "" "" "1" "1" "4221" "392255" "601147" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 21:17:09" "" "" "00000" "2013-12-10 21:17:09" "" ## 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}}" "00003204" "GDF6" "growth differentiation factor 6" "001" "NM_001001557.2" "" "NP_001001557.1" "" "" "" "-100" "3601" "1368" "97154558" "97173020" "00000" "2013-12-10 21:17:09" "" "" "" "8" ## 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 = 3 "{{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}}" "0000001254" "0" "99" "8" "97157413" "97157413" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-10-19 20:24:49" "GDF6_000002" "g.97157413G>T" "" "{PMID:18425797:18425797};{PMID:19129173:19129173};{PMID:23307924:23307924}" "" "rs121909352" "subst" "0" ";" "0.806" "" "" "" "" "MSCV_0001254" "" "0000001255" "0" "99" "8" "97157564" "97157564" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-08 00:31:15" "GDF6_000003" "g.97157564C>T" "" "" "" "" "subst" "0" ";" "-0.861" "" "" "" "" "MSCV_0001255" "" "0000001256" "0" "99" "8" "97172752" "97172752" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-10-19 20:53:14" "GDF6_000001" "g.97172752C>G" "" "" "" "" "subst" "0" ";" "3.210" "" "" "" "" "MSCV_0001256" "" ## 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 = 3 "{{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}}" "0000001254" "00003204" "55" "746" "0" "746" "0" "c.746C>A" "2/2" "p.(Ala249Glu)" "r.(?)" "benign(0.002)" "" "missense_variant" "" "" "tolerated(0.45)" "0000001255" "00003204" "55" "595" "0" "595" "0" "c.595G>A" "2/2" "p.(Ala199Thr)" "r.(?)" "benign(0.036)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001256" "00003204" "55" "169" "0" "169" "0" "c.169G>C" "1/2" "p.(Asp57His)" "r.(?)" "benign(0.014)" "" "missense_variant" "" "" "tolerated(0.06)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0