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MSeqDR Data Summary for the Term ENSG00000171503:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000171503 MSeqDR Search EnsemblETFDH129849ENSG00000171503ENST00000512251ENSP00000425661electron-transferring-flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:3483]41595932771596307751q32.1159593277159601759ETFDHETFDH-008HGNC SymbolHGNC transcript name838.19protein_codingprotein_codingensembl_havahavanaKNOWNPUTATIVE21103483ETFDH27524


MSeqDR Master Exome Data Set M1: 103 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
14159593548CTENST00000307738ENSG00000171503159593277159630775ENSP00000303552ETFDH1---5'_UTRNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
24159593548CTENST00000436096ENSG00000171503159593277159630775-ETFDH1-c.81C>Tp.P27PsynNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
34159593548CTENST00000507475ENSG00000171503159593277159630775ENSP00000422735ETFDH1---5'_UTRNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
44159593548CTENST00000510353ENSG00000171503159593277159630775-ETFDH1-c.81C>Tp.P27PsynNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
54159593548CTENST00000511912ENSG00000171503159593277159630775ENSP00000426638ETFDH1ETFD_HUMAN--5'_UTRNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
64159593548CTENST00000512251ENSG00000171503159593277159630775ENSP00000425661ETFDH1---5'_UTRNA-T=0/C=3182;T=3/C=1381;T=3/C=4563----het2
74159593632GCENST00000307738ENSG00000171503159593277159630775ENSP00000303552ETFDH1-c.24G>Cp.L8LsynNA--lod=49:385---het1
84159593632GCENST00000436096ENSG00000171503159593277159630775-ETFDH1-c.165G>Cp.L55LsynNA--lod=49:385---het1
94159593632GCENST00000506422ENSG00000171503159593277159630775-ETFDH1-c.76G>Cp.V26Lnon-synNA--lod=49:385---het1
104159593632GCENST00000507475ENSG00000171503159593277159630775ENSP00000422735ETFDH1---5'_UTRNA--lod=49:385---het1
114159593632GCENST00000510353ENSG00000171503159593277159630775-ETFDH1-c.165G>Cp.L55LsynNA--lod=49:385---het1
124159593632GCENST00000511912ENSG00000171503159593277159630775ENSP00000426638ETFDH1ETFD_HUMANc.24G>Cp.L8LsynNA--lod=49:385---het1
134159593632GCENST00000512251ENSG00000171503159593277159630775ENSP00000425661ETFDH1-c.24G>Cp.L8LsynNA--lod=49:385---het1
144159601676CTENST00000436096ENSG00000171503159593277159630775-ETFDH1-c.233C>Tp.T78Inon-synrs115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-het269
154159601676CTENST00000436096ENSG00000171503159593277159630775-ETFDH1-c.233C>Tp.T78Inon-synrs115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-hom791
164159601676CTENST00000511912ENSG00000171503159593277159630775ENSP00000426638ETFDH1ETFD_HUMANc.92C>Tp.T31Inon-synrs115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-het269
174159601676CTENST00000511912ENSG00000171503159593277159630775ENSP00000426638ETFDH1ETFD_HUMANc.92C>Tp.T31Inon-synrs115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-hom791
184159601676CTENST00000512251ENSG00000171503159593277159630775ENSP00000425661ETFDH1----4bp 3'_splice_siters115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-het269
194159601676CTENST00000512251ENSG00000171503159593277159630775ENSP00000425661ETFDH1----4bp 3'_splice_siters115592900.82342T=7394/C=1204;T=1144/C=3262;T=8538/C=4466lod=61:409TOLERATEDB-hom791
204159603110AGENST00000514148ENSG00000171503159593277159630775-ETFDH1-c.17A>Gp.*6*synrs623511980.02985-----het3
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       Transcripts and variants in the surrounding ETFDH 4:159593277..159630775 region Gbrowse