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MSeqDR Data Summary for the Term NDUFAF1:
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
ENSG00000137806 MSeqDR Search EnsemblNDUFAF112923ENSG00000137806ENST00000260361ENSP00000260361NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Source:HGNC Symbol;Acc:18828]154167955141694717-1q15.14167955141694642NDUFAF1NDUFAF1-001HGNC SymbolHGNC transcript name446.09protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN5110318828NDUFAF1NM_01601327521


MSeqDR Master Exome Data Set M1: 67 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11541679685GCENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.941C>Gp.A314Gnon-synrs129007020.15429C=1634/G=6966;C=163/G=4243;C=1797/G=11209lod=207:539DAMAGINGD-hom35
21541679685GCENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.941C>Gp.A314Gnon-synrs129007020.15429C=1634/G=6966;C=163/G=4243;C=1797/G=11209lod=207:539DAMAGINGD-het283
31541679701GCENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.925C>Gp.H309Dnon-synrs199599633-C=3/G=8597;C=0/G=4406;C=3/G=13003lod=207:539DAMAGINGD-het1
41541679701GCENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1---3'_UTRrs199599633-C=3/G=8597;C=0/G=4406;C=3/G=13003lod=207:539DAMAGINGD-het1
51541679717CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.909G>Ap.V303Vsynrs734071090.1107T=415/C=8185;T=702/C=3704;T=1117/C=11889----het102
61541679717CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.909G>Ap.V303Vsynrs734071090.1107T=415/C=8185;T=702/C=3704;T=1117/C=11889----hom3
71541679717CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1---3'_UTRrs734071090.1107T=415/C=8185;T=702/C=3704;T=1117/C=11889----het102
81541679717CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1---3'_UTRrs734071090.1107T=415/C=8185;T=702/C=3704;T=1117/C=11889----hom3
91541679750ACENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.876T>Gp.G292GsynNA--lod=202:536---het1
101541679750ACENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1---3'_UTRNA--lod=202:536---het1
111541680739TAENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMAN---19bp 3'_splice_siters1393834750.00274A=20/T=8580;A=4/T=4402;A=24/T=12982----het5
121541680739TAENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1----19bp 3'_splice_siters1393834750.00274A=20/T=8580;A=4/T=4402;A=24/T=12982----het5
131541686417CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1---3'_UTRrs1120768610.00996-----het7
141541687108CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.708G>Ap.M236Inon-synrs1505393990.00092T=23/C=8577;T=2/C=4404;T=25/C=12981lod=205:538TOLERATEDP-het4
151541687108CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1-c.708G>Ap.M236Inon-synrs1505393990.00092T=23/C=8577;T=2/C=4404;T=25/C=12981lod=205:538TOLERATEDP-het4
161541687120CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.696G>Ap.R232RsynNA------het2
171541687120CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1-c.696G>Ap.R232RsynNA------het2
181541687178CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.638G>Ap.R213Hnon-synrs144437724-T=3/C=8597;T=1/C=4405;T=4/C=13002lod=137:495DAMAGINGD-het1
191541687178CTENST00000559127ENSG000001378064167955141694717ENSP00000453027NDUFAF1-1-c.638G>Ap.R213Hnon-synrs144437724-T=3/C=8597;T=1/C=4405;T=4/C=13002lod=137:495DAMAGINGD-het1
201541688722CTENST00000260361ENSG000001378064167955141694717ENSP00000260361NDUFAF1-1CIA30_HUMANc.536G>Ap.R179Qnon-synNA---TOLERATEDB-het2
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       Transcripts and variants in the surrounding NDUFAF1 15:41679551..41694717 region Gbrowse