### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC8) # 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}}" "ABCC8" "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" "11" "p15.1" "unknown" "NC_000011.9" "UD_128143686316" "" "" "" "1" "1" "59" "6833" "600509" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:05:25" "" "" "00000" "2013-11-26 22:05:25" "" ## 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}}" "00003124" "ABCC8" "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" "001" "NM_000352.3" "" "NP_000343.2" "" "" "" "-126" "4852" "4746" "17414432" "17498449" "00000" "2013-11-26 22:05:25" "" "" "" "11" ## 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}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCC8" "00102" ## 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 = 15 "{{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}}" "0000000283" "0" "99" "11" "17417462" "17417462" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 13:28:49" "ABCC8_000001" "g.17417462G>A" "" "{PMID:18025464:18025464};{PMID:16885549:16885549}" "" "rs137852673" "subst" "0" "; clinvar;" "5.060" "" "" "" "" "MSCV_0000283" "" "0000000284" "0" "99" "11" "17417462" "17417462" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-09 23:57:18" "ABCC8_000002" "g.17417462G>T" "" "{PMID:18025464:18025464};{PMID:16885549:16885549}" "" "rs137852673" "subst" "0" "; clinvar;" "5.060" "" "" "" "" "MSCV_0000284" "" "0000000285" "0" "99" "11" "17452434" "17452434" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-10 00:06:28" "ABCC8_000003" "g.17452434G>C" "" "{PMID:16885549:16885549}" "" "rs137852674" "subst" "0" "; clinVar; Ensembl;" "5.460" "" "" "" "" "MSCV_0000285" "" "0000016389" "0" "99" "11" "17417462" "17417462" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-14 03:05:02" "ABCC8_000001" "g.17417462G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000283" "" "0000016390" "0" "99" "11" "17452434" "17452434" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:43:39" "ABCC8_000003" "g.17452434G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000285" "" "0000016391" "0" "77" "11" "17482222" "17482222" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-03 05:37:39" "ABCC8_000004" "g.17482222C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016391" "" "0000024093" "0" "00" "11" "17415926" "17415926" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-07-17 21:33:33" "ABCC8_000012" "g.17415926C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024094" "0" "00" "11" "17417158" "17417158" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-14 01:55:37" "ABCC8_000013" "g.17417158G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024095" "0" "00" "11" "17434263" "17434263" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-03 03:15:39" "ABCC8_000005" "g.17434263G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024096" "0" "00" "11" "17448642" "17448642" "subst" "35" "0.00038503" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-07-17 17:08:30" "ABCC8_000006" "g.17448642C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024097" "0" "00" "11" "17470143" "17470143" "subst" "35" "0.00100108" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:29" "ABCC8_000007" "g.17470143A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024098" "0" "00" "11" "17474779" "17474779" "subst" "35" "0.00077006" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:35" "ABCC8_000008" "g.17474779C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024099" "0" "00" "11" "17485156" "17485156" "subst" "35" "0.00100262" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-09 23:46:59" "ABCC8_000009" "g.17485156C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024100" "0" "00" "11" "17496431" "17496431" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:54" "ABCC8_000010" "g.17496431A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024101" "0" "00" "11" "17496502" "17496502" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-30 04:40:55" "ABCC8_000011" "g.17496502C>T" "" "" "" "" "" "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 = 15 "{{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}}" "0000000283" "00003124" "77" "4135" "0" "4135" "0" "c.4135C>T" "34/39" "p.(Arg1379Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000284" "00003124" "77" "4135" "0" "4135" "0" "c.4135C>A" "34/39" "p.(Arg1379Ser)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000285" "00003124" "99" "1744" "0" "1744" "0" "c.1744C>G" "12/39" "p.(Leu582Val)" "r.(?)" "possibly_damaging(0.842)" "" "missense_variant" "" "" "tolerated(0.08)" "0000016389" "00003124" "00" "4135" "0" "4135" "0" "c.4135C>T" "" "p.(Arg1379Cys)" "r.(?)" "" "" "" "" "" "-" "0000016390" "00003124" "00" "1744" "0" "1744" "0" "c.1744C>G" "" "p.(Leu582Val)" "r.(?)" "" "" "" "" "" "-" "0000016391" "00003124" "00" "824" "0" "824" "0" "c.824G>A" "" "p.(Arg275Gln)" "r.(?)" "" "" "" "" "" "-" "0000024093" "00003124" "00" "4432" "0" "4432" "0" "c.4432G>A" "" "p.(Gly1478Arg)" "r.(?)" "" "" "" "" "" "-" "0000024094" "00003124" "00" "4306" "0" "4306" "0" "c.4306C>T" "" "p.(Arg1436*)" "r.(?)" "" "" "" "" "" "-" "0000024095" "00003124" "00" "2506" "0" "2506" "0" "c.2506C>T" "" "p.(Arg836*)" "r.(?)" "" "" "" "" "" "-" "0000024096" "00003124" "00" "2176" "0" "2176" "0" "c.2176G>A" "" "p.(Ala726Thr)" "r.(?)" "" "" "" "" "" "-" "0000024097" "00003124" "00" "1252" "0" "1252" "0" "c.1252T>C" "" "p.(Cys418Arg)" "r.(?)" "" "" "" "" "" "-" "0000024098" "00003124" "00" "1063" "0" "1063" "0" "c.1063G>A" "" "p.(Ala355Thr)" "r.(?)" "" "" "" "" "" "-" "0000024099" "00003124" "00" "413" "-5" "413" "-5" "c.413-5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024100" "00003124" "00" "290" "2" "290" "2" "c.290+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024101" "00003124" "00" "221" "0" "221" "0" "c.221G>A" "" "p.(Arg74Gln)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0