### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HRAS) # 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}}" "HRAS" "Harvey rat sarcoma viral oncogene homolog" "11" "p15.5" "unknown" "NG_007666.1" "UD_139212741643" "" "" "" "1" "1" "5173" "3265" "190020" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:49:45" "" "" "00000" "2014-08-18 12:49:45" "" ## 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}}" "00003315" "HRAS" "transcript variant 2" "005" "NM_176795.3" "" "NP_789765.1" "" "" "" "-188" "1046" "513" "532242" "535550" "00000" "2014-08-18 12:49:45" "" "" "" "" ## 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 = 10 "{{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}}" "0000000267" "0" "99" "11" "534286" "534286" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-03-15 21:24:14" "HRAS_000007" "g.534286C>A" "" "" "" "NA" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000267" "" "0000000268" "0" "99" "11" "534286" "534286" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-03-15 21:03:21" "HRAS_000008" "g.534286C>G" "" "" "" "" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000268" "" "0000000269" "0" "99" "11" "534286" "534286" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-23 01:28:44" "HRAS_000009" "g.534286C>T" "" "" "" "NA" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000269" "" "0000000271" "0" "99" "11" "534288" "534288" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:27" "HRAS_000001" "g.534288C>A" "" "{PMID:16170316:16170316};{PMID:22499344:22499344};{PMID:16443854:16443854};{PMID:20658932:20658932};{PMID:17412879:17412879};{PMID:18039947:18039947};{PMID:6092966:6092966};{PMID:6330729:6330729};{PMID:17979197:17979197};{PMID:21344638:21344638};{PMID:171" "" "rs104894230" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000271" "" "0000000273" "0" "99" "11" "534288" "534288" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 11:23:18" "HRAS_000002" "g.534288C>G" "" "{PMID:16170316:16170316};{PMID:22499344:22499344};{PMID:16443854:16443854};{PMID:20658932:20658932};{PMID:17412879:17412879};{PMID:18039947:18039947};{PMID:6092966:6092966};{PMID:6330729:6330729};{PMID:17979197:17979197};{PMID:21344638:21344638};{PMID:171" "" "rs104894230" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000273" "" "0000000274" "0" "99" "11" "534288" "534288" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:28" "HRAS_000003" "g.534288C>T" "" "{PMID:16170316:16170316};{PMID:22499344:22499344};{PMID:16443854:16443854};{PMID:20658932:20658932};{PMID:17412879:17412879};{PMID:18039947:18039947};{PMID:6092966:6092966};{PMID:6330729:6330729};{PMID:17979197:17979197};{PMID:21344638:21344638};{PMID:171" "" "rs104894230" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000274" "" "0000000275" "0" "99" "11" "534289" "534289" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-06-19 03:41:09" "HRAS_000004" "g.534289C>A" "" "{PMID:11150980:11150980};{PMID:17412879:17412879};{PMID:20660566:20660566};{PMID:16443854:16443854};{PMID:19382114:19382114};{PMID:22926243:22926243};{PMID:16329078:16329078};{PMID:17054105:17054105};{PMID:18039947:18039947};{PMID:19371735:19371735};{PMID" "" "rs104894229" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000275" "" "0000000277" "0" "99" "11" "534289" "534289" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-23 10:41:22" "HRAS_000005" "g.534289C>G" "" "{PMID:11150980:11150980};{PMID:17412879:17412879};{PMID:20660566:20660566};{PMID:16443854:16443854};{PMID:19382114:19382114};{PMID:22926243:22926243};{PMID:16329078:16329078};{PMID:17054105:17054105};{PMID:18039947:18039947};{PMID:19371735:19371735};{PMID" "" "rs104894229" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000277" "" "0000000278" "0" "99" "11" "534289" "534289" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:31" "HRAS_000006" "g.534289C>T" "" "{PMID:11150980:11150980};{PMID:17412879:17412879};{PMID:20660566:20660566};{PMID:16443854:16443854};{PMID:19382114:19382114};{PMID:22926243:22926243};{PMID:16329078:16329078};{PMID:17054105:17054105};{PMID:18039947:18039947};{PMID:19371735:19371735};{PMID" "" "rs104894229" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000278" "" "0000016374" "0" "99" "11" "534288" "534288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-19 16:05:14" "HRAS_000001" "g.534288C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000271" "" ## 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 = 10 "{{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}}" "0000000267" "00003315" "00" "37" "0" "37" "0" "c.37G>T" "2/7" "p.(Gly13Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.05)" "0000000268" "00003315" "55" "37" "0" "37" "0" "c.37G>C" "2/7" "p.(Gly13Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0)" "0000000269" "00003315" "00" "37" "0" "37" "0" "c.37G>A" "2/7" "p.(Gly13Ser)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.02)" "0000000271" "00003315" "55" "35" "0" "35" "0" "c.35G>T" "2/7" "p.(Gly12Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0)" "0000000273" "00003315" "00" "35" "0" "35" "0" "c.35G>C" "2/7" "p.(Gly12Ala)" "r.(?)" "probably_damaging(0.979)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.03)" "0000000274" "00003315" "00" "35" "0" "35" "0" "c.35G>A" "2/7" "p.(Gly12Asp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0)" "0000000275" "00003315" "55" "34" "0" "34" "0" "c.34G>T" "2/7" "p.(Gly12Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.04)" "0000000277" "00003315" "00" "34" "0" "34" "0" "c.34G>C" "2/7" "p.(Gly12Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.01)" "0000000278" "00003315" "00" "34" "0" "34" "0" "c.34G>A" "2/7" "p.(Gly12Ser)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0.02)" "0000016374" "00003315" "00" "35" "0" "35" "0" "c.35G>T" "" "p.(Gly12Val)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0