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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 CHN1:

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
ENSG00000128656	CHN1	0	0	9	ENSG00000128656	ENST00000443238	ENSP00000409798	chimerin 1 [Source:HGNC Symbol;Acc:1943]	2	175664091	175870097	-1	q31.1	175673655	175712479	CHN1	CHN1-010	HGNC Symbol	HGNC transcript name	18	37.22	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	1123	1943	CHN1		27508

MSeqDR Master Exome Data Set M1: 217 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	2	175664106	A	-AAGT	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs140487322	-	-	-	-	-	-	het	92
2	2	175664106	A	-AAGT	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs140487322	-	-	-	-	-	-	hom	10
3	2	175664167	C	T	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs192645480	0.00967	-	lod=521:638	-	-	-	het	19
4	2	175664201	T	A	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs74780149	0.0187	-	lod=521:638	-	-	-	het	3
5	2	175664220	G	A	ENST00000295497	ENSG00000128656	175664091	175870097	ENSP00000295497	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=521:638	-	-	-	het	1
6	2	175664220	G	A	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=521:638	-	-	-	het	1
7	2	175664280	C	T	ENST00000295497	ENSG00000128656	175664091	175870097	ENSP00000295497	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs144057045	0.00092	-	lod=521:638	-	-	-	het	2
8	2	175664280	C	T	ENST00000409597	ENSG00000128656	175664091	175870097	ENSP00000386469	CHN1	-1	-	-	-	3'_UTR	rs144057045	0.00092	-	lod=521:638	-	-	-	het	2
9	2	175664280	C	T	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	rs144057045	0.00092	-	lod=521:638	-	-	-	het	2
10	2	175664280	C	T	ENST00000488080	ENSG00000128656	175664091	175870097	-	CHN1	-1	-	c.1795G>A	p.V599I	non-syn	rs144057045	0.00092	-	lod=521:638	-	-	-	het	2
11	2	175664374	T	C	ENST00000295497	ENSG00000128656	175664091	175870097	ENSP00000295497	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	2	175664374	T	C	ENST00000409597	ENSG00000128656	175664091	175870097	ENSP00000386469	CHN1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	2	175664374	T	C	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	2	175664374	T	C	ENST00000488080	ENSG00000128656	175664091	175870097	-	CHN1	-1	-	c.1701A>G	p.I567M	non-syn	NA	-	-	-	-	-	-	het	2
15	2	175664588	G	A	ENST00000295497	ENSG00000128656	175664091	175870097	ENSP00000295497	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=351:596	-	-	-	het	2
16	2	175664588	G	A	ENST00000409597	ENSG00000128656	175664091	175870097	ENSP00000386469	CHN1	-1	-	-	-	3'_UTR	NA	-	-	lod=351:596	-	-	-	het	2
17	2	175664588	G	A	ENST00000409900	ENSG00000128656	175664091	175870097	ENSP00000386741	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=351:596	-	-	-	het	2
18	2	175664588	G	A	ENST00000488080	ENSG00000128656	175664091	175870097	-	CHN1	-1	-	c.1487C>T	p.P496L	non-syn	NA	-	-	lod=351:596	-	-	-	het	2
19	2	175664624	C	T	ENST00000295497	ENSG00000128656	175664091	175870097	ENSP00000295497	CHN1	-1	CHIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=351:596	-	-	-	het	2
20	2	175664624	C	T	ENST00000409597	ENSG00000128656	175664091	175870097	ENSP00000386469	CHN1	-1	-	-	-	3'_UTR	NA	-	-	lod=351:596	-	-	-	het	2

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Transcripts and variants in the surrounding CHN1 2:175664091..175870097 region Gbrowse