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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term RAD21:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000164754	RAD21	0	0	11	ENSG00000164754	ENST00000297338	ENSP00000297338	RAD21 homolog (S. pombe) [Source:HGNC Symbol;Acc:9811]	8	117858174	117887105	-1	q24.11	117858174	117887105	RAD21	RAD21-001	HGNC Symbol	HGNC transcript name	10	36.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5885	9811	RAD21	NM_006265	27523

MSeqDR Master Exome Data Set M1: 122 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	8	117858212	T	C	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs143808293	0.019	-	lod=1493:750	-	-	-	het	3
2	8	117858350	G	A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs14795	0.2024	-	lod=1493:750	-	-	-	het	66
3	8	117858350	G	A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs14795	0.2024	-	lod=1493:750	-	-	-	hom	5
4	8	117858389	G	A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs4570	0.7732	-	lod=1493:750	-	-	-	hom	315
5	8	117858389	G	A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs4570	0.7732	-	lod=1493:750	-	-	-	het	354
6	8	117858445	A	T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs3020109	0.0817	-	lod=1493:750	-	-	-	het	10
7	8	117858445	A	T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs3020109	0.0817	-	lod=1493:750	-	-	-	hom	1
8	8	117858486	A	G	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	NA	-	-	lod=1493:750	-	-	-	het	1
9	8	117858532	A	-T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs16918579	-	-	lod=1493:750	-	-	-	het	5
10	8	117858606	C	+AT	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs16918570	-	-	lod=416:614	-	-	-	het	397
11	8	117858606	C	+AT	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs16918570	-	-	lod=416:614	-	-	-	hom	181
12	8	117858732	C	T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs113836837	0.0355	-	lod=48:383	-	-	-	het	3
13	8	117858750	C	+A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs200817314	-	-	lod=278:571	-	-	-	hom	5
14	8	117858750	C	+A	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs200817314	-	-	lod=278:571	-	-	-	het	74
15	8	117858785	C	T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	NA	-	-	lod=278:571	-	-	-	het	1
16	8	117858814	C	T	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs73310206	0.0059	-	lod=278:571	-	-	-	het	1
17	8	117858937	C	+CAAA	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	rs138170833	-	-	-	-	-	-	het	7
18	8	117858958	T	C	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	8	117859271	A	-G	ENST00000297338	ENSG00000164754	117858174	117887105	ENSP00000297338	RAD21	-1	RAD21_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	8	117859271	A	-G	ENST00000523986	ENSG00000164754	117858174	117887105	ENSP00000428513	RAD21	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding RAD21 8:117858174..117887105 region Gbrowse