### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRAS) # 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}}" "NRAS" "neuroblastoma RAS viral (v-ras) oncogene homolog" "1" "p13.2" "unknown" "LRG_92" "UD_139212743906" "" "" "" "1" "1" "7989" "4893" "164790" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:55:58" "" "" "00000" "2014-08-18 12:55:58" "" ## 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}}" "00003322" "NRAS" "neuroblastoma RAS viral (v-ras) oncogene homolog" "001" "NM_002524.4" "" "NP_002515.1" "" "" "" "-254" "4200" "570" "115247085" "115259515" "00000" "2014-08-18 12:55:58" "" "" "" "" ## 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 = 8 "{{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}}" "0000000063" "0" "99" "1" "115256529" "115256529" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:15" "NRAS_000004" "g.115256529T>A" "" "" "" "NA" "subst" "0" ";" "5.080" "" "" "" "" "MSCV_0000063" "" "0000000064" "0" "99" "1" "115256529" "115256529" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-03 06:29:33" "NRAS_000005" "g.115256529T>C" "" "" "" "" "subst" "0" ";" "5.080" "" "" "" "" "MSCV_0000064" "" "0000000065" "0" "99" "1" "115256529" "115256529" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:16" "NRAS_000006" "g.115256529T>G" "" "" "" "NA" "subst" "0" ";" "5.080" "" "" "" "" "MSCV_0000065" "" "0000000066" "0" "99" "1" "115258681" "115258681" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:16" "NRAS_000007" "g.115258681G>A" "" "" "" "" "subst" "0" ";" "5.450" "" "" "" "" "MSCV_0000066" "" "0000000067" "0" "99" "1" "115258747" "115258747" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-05 22:22:23" "NRAS_000001" "g.115258747C>A" "" "" "" "NA" "subst" "0" ";" "5.580" "" "" "" "" "MSCV_0000067" "" "0000000068" "0" "99" "1" "115258747" "115258747" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-17 00:30:10" "NRAS_000002" "g.115258747C>G" "" "" "" "NA" "subst" "0" ";" "5.580" "" "" "" "" "MSCV_0000068" "" "0000000069" "0" "99" "1" "115258747" "115258747" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 06:41:01" "NRAS_000003" "g.115258747C>T" "" "" "" "" "subst" "0" ";" "5.580" "" "" "" "" "MSCV_0000069" "" "0000015504" "0" "99" "1" "115258681" "115258681" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-22 11:27:35" "NRAS_000007" "g.115258681G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000066" "" ## 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 = 8 "{{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}}" "0000000063" "00003322" "00" "182" "0" "182" "0" "c.182A>T" "3/7" "p.(Gln61Leu)" "r.(?)" "benign(0.109)" "" "missense_variant" "" "" "deleterious(0)" "0000000064" "00003322" "55" "182" "0" "182" "0" "c.182A>G" "3/7" "p.(Gln61Arg)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000065" "00003322" "00" "182" "0" "182" "0" "c.182A>C" "3/7" "p.(Gln61Pro)" "r.(?)" "possibly_damaging(0.713)" "" "missense_variant" "" "" "deleterious(0)" "0000000066" "00003322" "55" "101" "0" "101" "0" "c.101C>T" "2/7" "p.(Pro34Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000067" "00003322" "00" "35" "0" "35" "0" "c.35G>T" "2/7" "p.(Gly12Val)" "r.(?)" "possibly_damaging(0.902)" "" "missense_variant" "" "" "deleterious(0)" "0000000068" "00003322" "00" "35" "0" "35" "0" "c.35G>C" "2/7" "p.(Gly12Ala)" "r.(?)" "benign(0.267)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000069" "00003322" "55" "35" "0" "35" "0" "c.35G>A" "2/7" "p.(Gly12Asp)" "r.(?)" "possibly_damaging(0.726)" "" "missense_variant" "" "" "deleterious(0)" "0000015504" "00003322" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Pro34Leu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0