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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 GAD1:

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
ENSG00000128683	GAD1	1	0	2	ENSG00000128683	ENST00000454603	ENSP00000402366	glutamate decarboxylase 1 (brain, 67kDa) [Source:HGNC Symbol;Acc:4092]	2	171669723	171717661	1	q31.1	171669723	171686095	GAD1	GAD1-007	HGNC Symbol	HGNC transcript name	16	45.82	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2571	4092	GAD1		27508

MSeqDR Master Exome Data Set M1: 241 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	171673852	G	A	ENST00000455008	ENSG00000128683	171669723	171717661	ENSP00000405917	GAD1	1	-	-	-	5'_UTR	rs116704777	0.0306	-	-	-	-	-	hom	1
2	2	171674939	C	T	ENST00000493875	ENSG00000128683	171669723	171717661	ENSP00000434696	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	2	171675061	C	+CT	ENST00000344257	ENSG00000128683	171669723	171717661	ENSP00000341167	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	2	171675061	C	+CT	ENST00000344257	ENSG00000128683	171669723	171717661	ENSP00000341167	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
5	2	171675061	C	+CT	ENST00000358196	ENSG00000128683	171669723	171717661	ENSP00000350928	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	2	171675061	C	+CT	ENST00000358196	ENSG00000128683	171669723	171717661	ENSP00000350928	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
7	2	171675061	C	+CT	ENST00000375272	ENSG00000128683	171669723	171717661	ENSP00000364421	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
8	2	171675061	C	+CT	ENST00000375272	ENSG00000128683	171669723	171717661	ENSP00000364421	GAD1	1	DCE1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
9	2	171675061	C	+CT	ENST00000414527	ENSG00000128683	171669723	171717661	ENSP00000403849	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
10	2	171675061	C	+CT	ENST00000414527	ENSG00000128683	171669723	171717661	ENSP00000403849	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
11	2	171675061	C	+CT	ENST00000445006	ENSG00000128683	171669723	171717661	ENSP00000394948	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
12	2	171675061	C	+CT	ENST00000445006	ENSG00000128683	171669723	171717661	ENSP00000394948	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
13	2	171675061	C	+CT	ENST00000454603	ENSG00000128683	171669723	171717661	ENSP00000402366	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
14	2	171675061	C	+CT	ENST00000454603	ENSG00000128683	171669723	171717661	ENSP00000402366	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
15	2	171675061	C	+CT	ENST00000455008	ENSG00000128683	171669723	171717661	ENSP00000405917	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
16	2	171675061	C	+CT	ENST00000455008	ENSG00000128683	171669723	171717661	ENSP00000405917	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
17	2	171675061	C	+CT	ENST00000456864	ENSG00000128683	171669723	171717661	ENSP00000394255	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
18	2	171675061	C	+CT	ENST00000456864	ENSG00000128683	171669723	171717661	ENSP00000394255	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
19	2	171675061	C	+CT	ENST00000493875	ENSG00000128683	171669723	171717661	ENSP00000434696	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
20	2	171675061	C	+CT	ENST00000493875	ENSG00000128683	171669723	171717661	ENSP00000434696	GAD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GAD1 2:171669723..171717661 region Gbrowse