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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 CYB5R3:

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
ENSG00000100243	CYB5R3	1	0	19	ENSG00000100243	ENST00000352397	ENSP00000338461	cytochrome b5 reductase 3 [Source:HGNC Symbol;Acc:2873]	22	43013846	43045574	-1	q13.2	43014814	43045574	CYB5R3	CYB5R3-001	HGNC Symbol	HGNC transcript name	9	55.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1727	2873	CYB5R3	NM_000398	27510

MSeqDR Master Exome Data Set M1: 343 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	22	43013883	C	T	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs78361912	0.0765	-	-	-	-	-	het	5
2	22	43013883	C	T	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs78361912	0.0765	-	-	-	-	-	het	5
3	22	43013931	C	T	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs138598491	0.0196	-	-	-	-	-	het	10
4	22	43013931	C	T	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs138598491	0.0196	-	-	-	-	-	het	10
5	22	43014351	G	A	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs8190475	0.0215	-	-	-	-	-	het	5
6	22	43014351	G	A	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs8190475	0.0215	-	-	-	-	-	hom	1
7	22	43014351	G	A	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs8190475	0.0215	-	-	-	-	-	het	5
8	22	43014351	G	A	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs8190475	0.0215	-	-	-	-	-	hom	1
9	22	43014521	C	T	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	22	43014521	C	T	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	22	43014560	A	-AT	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
12	22	43014560	A	-AT	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
13	22	43014561	A	-T	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
14	22	43014561	A	-T	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
15	22	43014713	C	-AA	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	27
16	22	43014713	C	-AA	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	27
17	22	43014713	C	+A	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	22	43014713	C	-A	ENST00000361740	ENSG00000100243	43013846	43045574	ENSP00000354468	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs36011098	-	-	-	-	-	-	het	104
19	22	43014713	C	+A	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	22	43014713	C	-A	ENST00000396303	ENSG00000100243	43013846	43045574	ENSP00000379597	CYB5R3	-1	NB5R3_HUMAN	-	-	3'_UTR	rs36011098	-	-	-	-	-	-	het	104

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CYB5R3 22:43013846..43045574 region Gbrowse