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MSeqDR Exome Dataset

HBCR annotation for 1.10042757T>C: This variant is real-time annotated by OneStopVariant Tool as below:


The variant(s) at this 1.10042757T>C location:


    This variant is not found in MSeqDR M1 exome data set!
 
EVS ESP6500 Exome Dataset
1.10042757T>C

 This variant 1.10042757T>C is not found in EVS exome data!
MSeqDR Data Summary for the Term ..:
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
ENSG00000173614 MSeqDR Search EnsemblNMNAT111010ENSG00000173614ENST00000403197ENSP00000385131nicotinamide nucleotide adenylyltransferase 1 [Source:HGNC Symbol;Acc:17877]110003486100455591p36.221000348610041824NMNAT1NMNAT1-002HGNC SymbolHGNC transcript name546.13protein_codingprotein_codingensembl_havahavanaKNOWNKNOWN6480217877NMNAT127511

MSeqDR Master Exome Data Set M1: 100 entries from same gene 1.10042757T>C

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1110032156GAENST00000377205ENSG000001736141000348610045559ENSP00000366410NMNAT11NMNA1_HUMANc.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-het2
2110032156GAENST00000377205ENSG000001736141000348610045559ENSP00000366410NMNAT11NMNA1_HUMANc.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-hom2
3110032156GAENST00000403197ENSG000001736141000348610045559ENSP00000385131NMNAT11-c.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-het2
4110032156GAENST00000403197ENSG000001736141000348610045559ENSP00000385131NMNAT11-c.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-hom2
5110032156GAENST00000462686ENSG000001736141000348610045559ENSP00000435134NMNAT11NMNA1_HUMANc.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-het2
6110032156GAENST00000462686ENSG000001736141000348610045559ENSP00000435134NMNAT11NMNA1_HUMANc.25G>Ap.V9Mnon-synNA--lod=434:618DAMAGINGP-hom2
7110032156GAENST00000492735ENSG000001736141000348610045559-NMNAT11-c.109G>Ap.V37Mnon-synNA--lod=434:618DAMAGINGP-het2
8110032156GAENST00000492735ENSG000001736141000348610045559-NMNAT11-c.109G>Ap.V37Mnon-synNA--lod=434:618DAMAGINGP-hom2
9110032207AGENST00000377205ENSG000001736141000348610045559ENSP00000366410NMNAT11NMNA1_HUMANc.76A>Gp.R26Gnon-synNA--lod=434:618DAMAGINGD-het3
10110032207AGENST00000403197ENSG000001736141000348610045559ENSP00000385131NMNAT11-c.76A>Gp.R26Gnon-synNA--lod=434:618DAMAGINGD-het3
11110032207AGENST00000462686ENSG000001736141000348610045559ENSP00000435134NMNAT11NMNA1_HUMANc.76A>Gp.R26Gnon-synNA--lod=434:618DAMAGINGD-het3
12110032207AGENST00000492735ENSG000001736141000348610045559-NMNAT11-c.160A>Gp.R54Gnon-synNA--lod=434:618DAMAGINGD-het3
13110032249AGENST00000377205ENSG000001736141000348610045559ENSP00000366410NMNAT11NMNA1_HUMAN--+3bp 5'_splice_siters1815042390.00186G=46/A=8554;G=5/A=4401;G=51/A=12955lod=434:618---het7
14110032249AGENST00000403197ENSG000001736141000348610045559ENSP00000385131NMNAT11---+3bp 5'_splice_siters1815042390.00186G=46/A=8554;G=5/A=4401;G=51/A=12955lod=434:618---het7
15110032249AGENST00000462686ENSG000001736141000348610045559ENSP00000435134NMNAT11NMNA1_HUMAN--+3bp 5'_splice_siters1815042390.00186G=46/A=8554;G=5/A=4401;G=51/A=12955lod=434:618---het7
16110032249AGENST00000492735ENSG000001736141000348610045559-NMNAT11-c.202A>Gp.R68Gnon-synrs1815042390.00186G=46/A=8554;G=5/A=4401;G=51/A=12955lod=434:618---het7
17110032291GAENST00000492735ENSG000001736141000348610045559-NMNAT11-c.244G>Ap.G82Rnon-synrs796854930.00854A=212/G=8388;A=22/G=4384;A=234/G=12772----het15
18110032552C+AAENST00000492735ENSG000001736141000348610045559-NMNAT11-c.505_506insAAp.Q169NAnon-synrs34232396------het4
19110032552C+AENST00000492735ENSG000001736141000348610045559-NMNAT11-c.505_506insAp.Q169NAnon-synrs34232396------het5
20110035689GTENST00000377205ENSG000001736141000348610045559ENSP00000366410NMNAT11NMNA1_HUMANc.155G>Tp.G52Vnon-synNA--lod=41:366DAMAGINGP-het2
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       Transcripts and variants in the surrounding NMNAT1 1:10003486..10045559 region Gbrowse