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MSeqDR Data Summary for the Term LMNB1:
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
ENSG00000113368 MSeqDR Search EnsemblLMNB1007ENSG00000113368ENST00000460265lamin B1 [Source:HGNC Symbol;Acc:6637]51261123151261727121q23.2126112315126172706LMNB1LMNB1-002HGNC SymbolHGNC transcript name942.33protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN40016637LMNB127527


MSeqDR Master Exome Data Set M1: 181 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
15126112738TAENST00000460265ENSG00000113368126112315126172712-LMNB11-c.424T>Ap.W142Rnon-synNA--lod=43:371---het1
25126112825GAENST00000460265ENSG00000113368126112315126172712-LMNB11-c.511G>Ap.A171Tnon-synNA------het5
35126112903GTENST00000261366ENSG00000113368126112315126172712ENSP00000261366LMNB11LMNB1_HUMAN--5'_UTRrs1118657880.0716-----het69
45126112903GTENST00000261366ENSG00000113368126112315126172712ENSP00000261366LMNB11LMNB1_HUMAN--5'_UTRrs1118657880.0716-----hom5
55126112903GTENST00000395354ENSG00000113368126112315126172712ENSP00000378761LMNB11---5'_UTRrs1118657880.0716-----het69
65126112903GTENST00000395354ENSG00000113368126112315126172712ENSP00000378761LMNB11---5'_UTRrs1118657880.0716-----hom5
75126112903GTENST00000460265ENSG00000113368126112315126172712-LMNB11-c.589G>Tp.V197Fnon-synrs1118657880.0716-----het69
85126112903GTENST00000460265ENSG00000113368126112315126172712-LMNB11-c.589G>Tp.V197Fnon-synrs1118657880.0716-----hom5
95126112903GTENST00000472034ENSG00000113368126112315126172712-LMNB11-c.51G>Tp.Q17Hnon-synrs1118657880.0716-----het69
105126112903GTENST00000472034ENSG00000113368126112315126172712-LMNB11-c.51G>Tp.Q17Hnon-synrs1118657880.0716-----hom5
115126112903GTENST00000492190ENSG00000113368126112315126172712-LMNB11-c.51G>Tp.Q17Hnon-synrs1118657880.0716-----het69
125126112903GTENST00000492190ENSG00000113368126112315126172712-LMNB11-c.51G>Tp.Q17Hnon-synrs1118657880.0716-----hom5
135126112903GTENST00000504788ENSG00000113368126112315126172712-LMNB11-c.59G>Tp.S20Inon-synrs1118657880.0716-----het69
145126112903GTENST00000504788ENSG00000113368126112315126172712-LMNB11-c.59G>Tp.S20Inon-synrs1118657880.0716-----hom5
155126113036A-GCTENST00000261366ENSG00000113368126112315126172712ENSP00000261366LMNB11LMNB1_HUMAN--5'_UTRNA------het3
165126113036A-GCTENST00000395354ENSG00000113368126112315126172712ENSP00000378761LMNB11---5'_UTRNA------het3
175126113036A-GCTENST00000460265ENSG00000113368126112315126172712-LMNB11-c.723_725delp.E241NAnon-synNA------het3
185126113036A-GCTENST00000492190ENSG00000113368126112315126172712-LMNB11----14bp 3'_splice_siteNA------het3
195126113098GCENST00000261366ENSG00000113368126112315126172712ENSP00000261366LMNB11LMNB1_HUMAN--5'_UTRNA------het2
205126113098GCENST00000395354ENSG00000113368126112315126172712ENSP00000378761LMNB11---5'_UTRNA------het2
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       Transcripts and variants in the surrounding LMNB1 5:126112315..126172712 region Gbrowse