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MSeqDR Exome Dataset

HBCR annotation for m.8993T>G: This variant is real-time annotated by OneStopVariant Tool as below:


The variant(s) at this m.8993T>G location:


    This variant is not found in MSeqDR M1 exome data set!
 
EVS ESP6500 Exome Dataset
m.8993T>G

 This variant m.8993T>G 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
ENSG00000198899 MSeqDR Search EnsemblMT-ATP617212ENSG00000198899ENST00000361899ENSP00000354632mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]M85279207185279207MT-ATP6MT-ATP6-201HGNC SymbolHGNC transcript name144.2protein_codingprotein_codinginsdcinsdcKNOWNKNOWN45087414MT-ATP6100965601

MSeqDR Master Exome Data Set M1: 94 entries from same gene m.8993T>G

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1M8527AGENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.1A>Gp.M1Vnon-synNA--lod=108:470---hom7
2M8546CTENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.20C>Tp.A7Vnon-synNA--lod=108:470---hom2
3M8557GAENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.31G>Ap.A11Tnon-synNA------het1
4M8557GAENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.31G>Ap.A11Tnon-synNA------hom12
5M8557GCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.31G>Cp.A11Pnon-synNA------het1
6M8559CTENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.33C>Tp.A11AsynNA------hom1
7M8566AGENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.40A>Gp.I14Vnon-synrs3020563------hom8
8M8566AGENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.40A>Gp.I14Vnon-synrs3020563------het1
9M8567TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.41T>Cp.I14Tnon-synNA------hom1
10M8584GAENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.58G>Ap.A20Tnon-synrs3135028------het1
11M8584GAENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.58G>Ap.A20Tnon-synrs3135028------hom17
12M8598TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.72T>Cp.I24IsynNA------hom2
13M8602TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.76T>Cp.F26Lnon-synNA------hom1
14M8610TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.84T>Cp.P28Psynrs113798969------hom1
15M8614TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.88T>Cp.L30LsynNA------hom4
16M8634TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.108T>Cp.T36TsynNA------hom2
17M8639TCENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.113T>Cp.I38Tnon-synNA------hom1
18M8649AGENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.123A>Gp.R41RsynNA--lod=24:309---hom1
19M8655CTENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.129C>Tp.I43Isynrs112660509------hom3
20M8658CTENST00000361899ENSG0000019889985279207ENSP00000354632MT-ATP61ATP6_HUMANc.132C>Tp.T44TsynNA------hom1
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       Transcripts and variants in the surrounding MT-ATP6 M:8527..9207 region Gbrowse