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MSeqDR Data Summary for the Term LMNA:
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
ENSG00000160789 MSeqDR Search EnsemblLMNA158459ENSG00000160789ENST00000368297ENSP00000357280lamin A/C [Source:HGNC Symbol;Acc:6636]11560523641561098801q22156095980156107656LMNALMNA-007HGNC SymbolHGNC transcript name2653.04protein_codingprotein_codingensembl_havahavanaKNOWNPUTATIVE40006636LMNANM_00128262427511


MSeqDR Master Exome Data Set M1: 509 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11156084449TAENST00000515711ENSG00000160789156052364156109880-LMNA1----12bp 3'_splice_siteNA--lod=22:300---het2
21156084572TCENST00000347559ENSG00000160789156052364156109880ENSP00000292304LMNA1LMNA_HUMAN--5'_UTRNA------het1
31156084572TCENST00000361308ENSG00000160789156052364156109880ENSP00000355292LMNA1LMNA_HUMAN--5'_UTRNA------het1
41156084572TCENST00000368299ENSG00000160789156052364156109880ENSP00000357282LMNA1---5'_UTRNA------het1
51156084572TCENST00000368300ENSG00000160789156052364156109880ENSP00000357283LMNA1LMNA_HUMAN--5'_UTRNA------het1
61156084572TCENST00000368301ENSG00000160789156052364156109880ENSP00000357284LMNA1LMNA_HUMAN--5'_UTRNA------het1
71156084572TCENST00000469565ENSG00000160789156052364156109880-LMNA1-c.69T>Cp.D23DsynNA------het1
81156084572TCENST00000470199ENSG00000160789156052364156109880-LMNA1-c.71T>Cp.I24Tnon-synNA------het1
91156084572TCENST00000478063ENSG00000160789156052364156109880-LMNA1-c.71T>Cp.I24Tnon-synNA------het1
101156084572TCENST00000515711ENSG00000160789156052364156109880-LMNA1-c.512T>Cp.I171Tnon-synNA------het1
111156084582TCENST00000347559ENSG00000160789156052364156109880ENSP00000292304LMNA1LMNA_HUMAN--5'_UTRrs80356803--lod=19:284---het2
121156084582TCENST00000361308ENSG00000160789156052364156109880ENSP00000355292LMNA1LMNA_HUMAN--5'_UTRrs80356803--lod=19:284---het2
131156084582TCENST00000368299ENSG00000160789156052364156109880ENSP00000357282LMNA1---5'_UTRrs80356803--lod=19:284---het2
141156084582TCENST00000368300ENSG00000160789156052364156109880ENSP00000357283LMNA1LMNA_HUMAN--5'_UTRrs80356803--lod=19:284---het2
151156084582TCENST00000368301ENSG00000160789156052364156109880ENSP00000357284LMNA1LMNA_HUMAN--5'_UTRrs80356803--lod=19:284---het2
161156084582TCENST00000469565ENSG00000160789156052364156109880-LMNA1-c.79T>Cp.C27Rnon-synrs80356803--lod=19:284---het2
171156084582TCENST00000470199ENSG00000160789156052364156109880-LMNA1-c.81T>Cp.P27Psynrs80356803--lod=19:284---het2
181156084582TCENST00000478063ENSG00000160789156052364156109880-LMNA1-c.81T>Cp.P27Psynrs80356803--lod=19:284---het2
191156084582TCENST00000515711ENSG00000160789156052364156109880-LMNA1-c.522T>Cp.P174Psynrs80356803--lod=19:284---het2
201156084622GTENST00000347559ENSG00000160789156052364156109880ENSP00000292304LMNA1LMNA_HUMAN--5'_UTRrs1158005100.0311-----het3
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       Transcripts and variants in the surrounding LMNA 1:156052364..156109880 region Gbrowse