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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 GATM:

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
ENSG00000171766	GATM	1	60	34	ENSG00000171766	ENST00000396659	ENSP00000379895	glycine amidinotransferase (L-arginine:glycine amidinotransferase) [Source:HGNC Symbol;Acc:4175]	15	45653322	45694525	-1	q21.1	45653322	45670991	GATM	GATM-001	HGNC Symbol	HGNC transcript name	13	40.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2628	4175	GATM	NM_001482	27521

MSeqDR Master Exome Data Set M1: 116 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	15	45653367	G	A	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs1049518	0.7881	-	-	-	-	-	hom	164
2	15	45653367	G	A	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs1049518	0.7881	-	-	-	-	-	het	323
3	15	45653367	G	A	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3868C>T	p.R1290C	non-syn	rs1049518	0.7881	-	-	-	-	-	hom	164
4	15	45653367	G	A	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3868C>T	p.R1290C	non-syn	rs1049518	0.7881	-	-	-	-	-	het	323
5	15	45653394	C	T	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs17618637	0.11531	-	-	-	-	-	het	152
6	15	45653394	C	T	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs17618637	0.11531	-	-	-	-	-	hom	11
7	15	45653394	C	T	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3841G>A	p.D1281N	non-syn	rs17618637	0.11531	-	-	-	-	-	het	152
8	15	45653394	C	T	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3841G>A	p.D1281N	non-syn	rs17618637	0.11531	-	-	-	-	-	hom	11
9	15	45653460	C	T	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs1145087	0.0058	-	lod=91:451	-	-	-	het	1
10	15	45653460	C	T	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3775G>A	p.A1259T	non-syn	rs1145087	0.0058	-	lod=91:451	-	-	-	het	1
11	15	45653572	C	+TG	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs35410548	-	-	-	-	-	-	het	326
12	15	45653572	C	+TG	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs35410548	-	-	-	-	-	-	hom	167
13	15	45653572	C	+TG	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3662_3663insCA	p.*1221NA	non-syn	rs35410548	-	-	-	-	-	-	het	326
14	15	45653572	C	+TG	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3662_3663insCA	p.*1221NA	non-syn	rs35410548	-	-	-	-	-	-	hom	167
15	15	45653592	A	G	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs1049508	0.6884	-	-	-	-	-	het	161
16	15	45653592	A	G	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	rs1049508	0.6884	-	-	-	-	-	hom	76
17	15	45653592	A	G	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3643T>C	p.S1215P	non-syn	rs1049508	0.6884	-	-	-	-	-	het	161
18	15	45653592	A	G	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3643T>C	p.S1215P	non-syn	rs1049508	0.6884	-	-	-	-	-	hom	76
19	15	45653608	T	G	ENST00000396659	ENSG00000171766	45653322	45694525	ENSP00000379895	GATM	-1	GATM_HUMAN	-	-	3'_UTR	NA	-	-	lod=91:451	-	-	-	het	3
20	15	45653608	T	G	ENST00000558362	ENSG00000171766	45653322	45694525	-	GATM	-1	-	c.3627A>C	p.E1209D	non-syn	NA	-	-	lod=91:451	-	-	-	het	3

** 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 GATM 15:45653322..45694525 region Gbrowse