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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 GLUD1:

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
ENSG00000148672	GLUD1	1	0	16	ENSG00000148672	ENST00000277865	ENSP00000277865	glutamate dehydrogenase 1 [Source:HGNC Symbol;Acc:4335]	10	88810243	88854623	-1	q23.2	88810243	88854623	GLUD1	GLUD1-001	HGNC Symbol	HGNC transcript name	6	42.11	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2746	4335	GLUD1	NM_005271	27525

MSeqDR Master Exome Data Set M1: 71 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	10	88810337	T	+A	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	10	88810337	T	-A	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	rs80258277	-	-	-	-	-	-	het	9
3	10	88810337	T	+A	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	10	88810337	T	-A	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	rs80258277	-	-	-	-	-	-	het	9
5	10	88810600	A	G	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	rs140942830	0.0318	-	-	-	-	-	het	1
6	10	88810600	A	G	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	rs140942830	0.0318	-	-	-	-	-	het	1
7	10	88810656	T	C	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	rs150260124	0.038	-	-	-	-	-	het	2
8	10	88810656	T	C	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	rs150260124	0.038	-	-	-	-	-	het	2
9	10	88810916	T	G	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	lod=289:575	-	-	-	het	1
10	10	88810916	T	G	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	lod=289:575	-	-	-	het	1
11	10	88810920	G	T	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	lod=289:575	-	-	-	het	2
12	10	88810920	G	T	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	lod=289:575	-	-	-	het	2
13	10	88810991	A	C	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	rs139349516	0.0029	-	-	-	-	-	het	1
14	10	88810991	A	C	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	rs139349516	0.0029	-	-	-	-	-	het	1
15	10	88811153	A	C	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	10	88811153	A	C	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	10	88811333	C	T	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	10	88811333	C	T	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	10	88811395	C	T	ENST00000277865	ENSG00000148672	88810243	88854623	ENSP00000277865	GLUD1	-1	DHE3_HUMAN	-	-	3'_UTR	NA	-	-	lod=41:366	-	-	-	het	1
20	10	88811395	C	T	ENST00000537649	ENSG00000148672	88810243	88854623	ENSP00000439291	GLUD1	-1	-	-	-	3'_UTR	NA	-	-	lod=41:366	-	-	-	het	1

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Transcripts and variants in the surrounding GLUD1 10:88810243..88854623 region Gbrowse