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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 CRYAB:

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
ENSG00000109846	CRYAB	1	0	28	ENSG00000109846	ENST00000524660	ENSP00000432454	crystallin, alpha B [Source:HGNC Symbol;Acc:2389]	11	111779289	111794446	-1	q23.1	111779343	111779991	CRYAB	CRYAB-012	HGNC Symbol	HGNC transcript name	15	46.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	1410	2389	CRYAB		27504
ENSG00000263007	CRYAB	1	0	28	ENSG00000263007	ENST00000574757	ENSP00000459282	crystallin, alpha B [Source:HGNC Symbol;Acc:2389]	HG388_HG400_PATCH	111779288	111794445	-1	q23.1	111781168	111783936	CRYAB	CRYAB-006	HGNC Symbol	HGNC transcript name	15	46.13	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	1410	2389	CRYAB		1000658995

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MSeqDR Master Exome Data Set M1: 120 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	11	111779861	A	G	ENST00000524660	ENSG00000109846	111779289	111794446	ENSP00000432454	CRYAB	-1	-	-	-	+16bp 5'_splice_site	rs41302377	0.02083	-	-	-	-	-	het	33
2	11	111780693	G	A	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	-	-	3'_UTR	rs80015283	0.0056	-	-	-	-	-	het	2
3	11	111780728	T	A	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	11	111780836	C	T	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	het	2
5	11	111780837	G	A	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	-	-	3'_UTR	rs2070894	0.33457	-	lod=13:243	-	-	-	het	327
6	11	111780837	G	A	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	-	-	3'_UTR	rs2070894	0.33457	-	lod=13:243	-	-	-	hom	58
7	11	111780950	G	T	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	c.425C>A	p.P142Q	non-syn	NA	-	-	-	-	-	-	het	1
8	11	111780953	A	G	ENST00000533971	ENSG00000109846	111779289	111794446	ENSP00000434269	CRYAB	-1	-	c.422T>C	p.V141A	non-syn	NA	-	-	-	-	-	-	het	1
9	11	111781047	A	C	ENST00000227251	ENSG00000109846	111779289	111794446	ENSP00000227251	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
10	11	111781047	A	C	ENST00000227251	ENSG00000109846	111779289	111794446	ENSP00000227251	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93
11	11	111781047	A	C	ENST00000525823	ENSG00000109846	111779289	111794446	ENSP00000435411	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
12	11	111781047	A	C	ENST00000525823	ENSG00000109846	111779289	111794446	ENSP00000435411	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93
13	11	111781047	A	C	ENST00000526167	ENSG00000109846	111779289	111794446	ENSP00000434793	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
14	11	111781047	A	C	ENST00000526167	ENSG00000109846	111779289	111794446	ENSP00000434793	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93
15	11	111781047	A	C	ENST00000526180	ENSG00000109846	111779289	111794446	ENSP00000436051	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
16	11	111781047	A	C	ENST00000526180	ENSG00000109846	111779289	111794446	ENSP00000436051	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93
17	11	111781047	A	C	ENST00000527899	ENSG00000109846	111779289	111794446	ENSP00000436089	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
18	11	111781047	A	C	ENST00000527899	ENSG00000109846	111779289	111794446	ENSP00000436089	CRYAB	-1	-	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93
19	11	111781047	A	C	ENST00000527950	ENSG00000109846	111779289	111794446	ENSP00000437149	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	het	426
20	11	111781047	A	C	ENST00000527950	ENSG00000109846	111779289	111794446	ENSP00000437149	CRYAB	-1	CRYAB_HUMAN	-	-	+4bp 5'_splice_site	rs11603779	0.32374	C=2578/A=6016;C=962/A=3440;C=3540/A=9456	-	-	-	-	hom	93

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Transcripts and variants in the surrounding CRYAB 11:111779289..111794446 region Gbrowse