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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 SARDH:

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
ENSG00000123453	SARDH	1	0	4	ENSG00000123453	ENST00000371872	ENSP00000360938	sarcosine dehydrogenase [Source:HGNC Symbol;Acc:10536]	9	136528682	136605077	-1	q34.2	136528682	136605042	SARDH	SARDH-001	HGNC Symbol	HGNC transcript name	8	56.35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1757	10536	SARDH	NM_007101	27518

MSeqDR Master Exome Data Set M1: 364 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	9	136528721	C	T	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	het	259
2	9	136528721	C	T	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	hom	28
3	9	136528721	C	T	ENST00000371872	ENSG00000123453	136528682	136605077	ENSP00000360938	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	het	259
4	9	136528721	C	T	ENST00000371872	ENSG00000123453	136528682	136605077	ENSP00000360938	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	hom	28
5	9	136528721	C	T	ENST00000439388	ENSG00000123453	136528682	136605077	ENSP00000403084	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	het	259
6	9	136528721	C	T	ENST00000439388	ENSG00000123453	136528682	136605077	ENSP00000403084	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	rs129886	0.2916	-	-	-	-	-	hom	28
7	9	136528843	A	G	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	9	136528843	A	G	ENST00000371872	ENSG00000123453	136528682	136605077	ENSP00000360938	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	9	136528843	A	G	ENST00000439388	ENSG00000123453	136528682	136605077	ENSP00000403084	SARDH	-1	SARDH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	136531839	C	G	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	het	40
11	9	136531839	C	G	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	hom	2
12	9	136531839	C	G	ENST00000371872	ENSG00000123453	136528682	136605077	ENSP00000360938	SARDH	-1	SARDH_HUMAN	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	het	40
13	9	136531839	C	G	ENST00000371872	ENSG00000123453	136528682	136605077	ENSP00000360938	SARDH	-1	SARDH_HUMAN	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	hom	2
14	9	136531839	C	G	ENST00000422262	ENSG00000123453	136528682	136605077	ENSP00000415537	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	het	40
15	9	136531839	C	G	ENST00000422262	ENSG00000123453	136528682	136605077	ENSP00000415537	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	hom	2
16	9	136531839	C	G	ENST00000439388	ENSG00000123453	136528682	136605077	ENSP00000403084	SARDH	-1	SARDH_HUMAN	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	het	40
17	9	136531839	C	G	ENST00000439388	ENSG00000123453	136528682	136605077	ENSP00000403084	SARDH	-1	SARDH_HUMAN	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	hom	2
18	9	136531839	C	G	ENST00000469828	ENSG00000123453	136528682	136605077	-	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	het	40
19	9	136531839	C	G	ENST00000469828	ENSG00000123453	136528682	136605077	-	SARDH	-1	-	-	-	+18bp 5'_splice_site	rs12235666	0.053	G=270/C=8324;G=77/C=4305;G=347/C=12629	-	-	-	-	hom	2
20	9	136531903	T	G	ENST00000371868	ENSG00000123453	136528682	136605077	ENSP00000360934	SARDH	-1	-	c.935A>C	p.D312A	non-syn	NA	-	-	lod=154:507	TOLERATED	B	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding SARDH 9:136528682..136605077 region Gbrowse