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MSeqDR Data Summary for the Term NDUFA1:
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
ENSG00000125356 MSeqDR Search EnsemblNDUFA1166ENSG00000125356ENST00000371437ENSP00000360492NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Source:HGNC Symbol;Acc:7683]X1190054501190106251q24119005450119010625NDUFA1NDUFA1-001HGNC SymbolHGNC transcript name143.57protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN46947683NDUFA1NM_00454127516


MSeqDR Master Exome Data Set M1: 14 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1X119005587TCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRrs18008230.093C=344/T=6262;C=501/T=3291;C=845/T=9553----hom37
2X119005587TCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRrs18008230.093C=344/T=6262;C=501/T=3291;C=845/T=9553----het60
3X119005698CGENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRNA------het4
4X119005705CGENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRrs7084630.8935-----het202
5X119005705CGENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRrs7084630.8935-----hom424
6X119005782GAENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRNA------het2
7X119005782GAENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRNA------hom2
8X119005842ACENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--5'_UTRNA------het1
9X119005968GCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMANc.94G>Cp.G32Rnon-synrs1801316-C=67/G=6661;C=4/G=3831;C=71/G=10492lod=36:352DAMAGINGD Mitochondrial complex 1 deficiencyhom2
10X119005968GCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMANc.94G>Cp.G32Rnon-synrs1801316-C=67/G=6661;C=4/G=3831;C=71/G=10492lod=36:352DAMAGINGD Mitochondrial complex 1 deficiencyhet4
11X119007303CGENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMANc.139C>Gp.L47Vnon-synNA--lod=32:340TOLERATEDP-het1
12X119007305GCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMANc.141G>Cp.L47Lsynrs140064980-C=10/G=6718;C=2/G=3833;C=12/G=10551lod=32:340---hom3
13X119007305GCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMANc.141G>Cp.L47Lsynrs140064980-C=10/G=6718;C=2/G=3833;C=12/G=10551lod=32:340---het1
14X119010514TCENST00000371437ENSG00000125356119005450119010625ENSP00000360492NDUFA11NDUA1_HUMAN--3'_UTRNA------het1
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       Transcripts and variants in the surrounding NDUFA1 X:119005450..119010625 region Gbrowse