### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GHRL) # 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}}" "GHRL" "ghrelin/obestatin prepropeptide" "3" "p26-p25" "unknown" "NC_000003.11" "UD_132118607219" "" "" "" "1" "1" "18129" "51738" "605353" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:08:47" "" "" "00000" "2013-11-26 22:08:47" "" ## 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}}" "00003133" "GHRL" "transcript variant 1" "012" "NM_016362.3" "" "NP_057446.1" "" "" "" "-49" "479" "354" "10327434" "10332419" "00000" "2013-11-26 22:08:47" "" "" "" "3" ## 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}}" "00114" "601665" "Obesity, autosomal dominant, 601665 (3)" "601665" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GHRL" "00114" ## 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}}" "0000000929" "0" "77" "3" "10328453" "10328453" "subst" "35" "0.0438259" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 07:33:22" "GHRL_000002" "g.10328453T>A" "" "{PMID:12050239:12050239}" "" "rs4684677" "subst" "0" "; clinVar; Ensembl;" "4.760" "" "" "" "" "MSCV_0000929" "" "0000000930" "0" "77" "3" "10331519" "10331519" "subst" "35" "0.00461326" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 07:38:24" "GHRL_000001" "g.10331519C>T" "" "{PMID:16204371:16204371};{PMID:11502844:11502844};{PMID:12050239:12050239}" "" "rs34911341" "subst" "0" "; clinVar; Ensembl;" "4.880" "" "" "" "" "MSCV_0000930" "" "0000020283" "0" "00" "3" "10328453" "10328453" "subst" "35" "0.0438259" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 09:36:17" "GHRL_000002" "g.10328453T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000929" "" "0000020284" "0" "00" "3" "10331519" "10331519" "subst" "35" "0.00461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 07:26:21" "GHRL_000001" "g.10331519C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000930" "" ## 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}}" "0000000929" "00003133" "77" "269" "0" "269" "0" "c.269A>T" "4/5" "p.(Gln90Leu)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000930" "00003133" "77" "152" "0" "152" "0" "c.152G>A" "2/3" "p.(Arg51Gln)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0)" "0000020283" "00003133" "00" "269" "0" "269" "0" "c.269A>T" "" "p.(Gln90Leu)" "r.(?)" "" "" "" "" "" "-" "0000020284" "00003133" "00" "152" "0" "152" "0" "c.152G>A" "" "p.(Arg51Gln)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0