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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 DMGDH:

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
ENSG00000132837	DMGDH	1	0	1	ENSG00000132837	ENST00000255189	ENSP00000255189	dimethylglycine dehydrogenase [Source:HGNC Symbol;Acc:24475]	5	78293438	78531861	-1	q14.1	78293438	78365472	DMGDH	DMGDH-001	HGNC Symbol	HGNC transcript name	12	41.49	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	29958	24475	DMGDH	NM_013391	27527

MSeqDR Master Exome Data Set M1: 245 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	5	78293542	T	C	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	5	78293873	C	T	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	5	78293886	G	T	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	5	78293940	G	A	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	c.2566C>T	p.R856W	non-syn	rs202241708	-	-	lod=60:407	DAMAGING	D	-	het	2
5	5	78293971	T	C	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	c.2535A>G	p.E845E	syn	rs877052	0.0271	C=0/T=8600;C=112/T=4294;C=112/T=12894	lod=32:340	-	-	-	het	1
6	5	78301172	C	T	ENST00000255189	ENSG00000132837	78293438	78531861	ENSP00000255189	DMGDH	-1	M2GD_HUMAN	c.2309G>A	p.R770Q	non-syn	rs41272262	0.00272	T=25/C=8575;T=1/C=4405;T=26/C=12980	lod=556:645	DAMAGING	D	-	het	3
7	5	78316930	T	-AAG	ENST00000523732	ENSG00000132837	78293438	78531861	ENSP00000430972	DMGDH	-1	-	-	-	3'_UTR	rs200735975	-	-	-	-	-	-	het	27
8	5	78317342	C	T	ENST00000380311	ENSG00000132837	78293438	78531861	ENSP00000369667	DMGDH	-1	-	-	-	3'_UTR	rs111781602	0.0072	-	-	-	-	-	het	1
9	5	78317342	C	T	ENST00000517853	ENSG00000132837	78293438	78531861	ENSP00000428995	DMGDH	-1	-	-	-	3'_UTR	rs111781602	0.0072	-	-	-	-	-	het	1
10	5	78317342	C	T	ENST00000518477	ENSG00000132837	78293438	78531861	ENSP00000427834	DMGDH	-1	-	-	-	3'_UTR	rs111781602	0.0072	-	-	-	-	-	het	1
11	5	78317342	C	T	ENST00000523732	ENSG00000132837	78293438	78531861	ENSP00000430972	DMGDH	-1	-	-	-	3'_UTR	rs111781602	0.0072	-	-	-	-	-	het	1
12	5	78317342	C	T	ENST00000540686	ENSG00000132837	78293438	78531861	ENSP00000439478	DMGDH	-1	-	-	-	3'_UTR	rs111781602	0.0072	-	-	-	-	-	het	1
13	5	78317370	C	T	ENST00000380311	ENSG00000132837	78293438	78531861	ENSP00000369667	DMGDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	5	78317370	C	T	ENST00000517853	ENSG00000132837	78293438	78531861	ENSP00000428995	DMGDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	5	78317370	C	T	ENST00000518477	ENSG00000132837	78293438	78531861	ENSP00000427834	DMGDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	5	78317370	C	T	ENST00000523732	ENSG00000132837	78293438	78531861	ENSP00000430972	DMGDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	5	78317370	C	T	ENST00000540686	ENSG00000132837	78293438	78531861	ENSP00000439478	DMGDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	5	78317413	C	T	ENST00000380311	ENSG00000132837	78293438	78531861	ENSP00000369667	DMGDH	-1	-	-	-	3'_UTR	rs731124	0.4138	T=1103/C=2869;T=791/C=959;T=1894/C=3828	-	-	-	-	het	462
19	5	78317413	C	T	ENST00000380311	ENSG00000132837	78293438	78531861	ENSP00000369667	DMGDH	-1	-	-	-	3'_UTR	rs731124	0.4138	T=1103/C=2869;T=791/C=959;T=1894/C=3828	-	-	-	-	hom	79
20	5	78317413	C	T	ENST00000517853	ENSG00000132837	78293438	78531861	ENSP00000428995	DMGDH	-1	-	-	-	3'_UTR	rs731124	0.4138	T=1103/C=2869;T=791/C=959;T=1894/C=3828	-	-	-	-	het	462

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Transcripts and variants in the surrounding DMGDH 5:78293438..78531861 region Gbrowse