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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 AMT:

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
ENSG00000145020	AMT	1	102	21	ENSG00000145020	ENST00000487589		aminomethyltransferase [Source:HGNC Symbol;Acc:473]	3	49454211	49460186	-1	p21.31	49456711	49459896	AMT	AMT-015	HGNC Symbol	HGNC transcript name	23	54.5	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	275	473	AMT		27517

MSeqDR Master Exome Data Set M1: 325 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	3	49454277	G	A	ENST00000273588	ENSG00000145020	49454211	49460186	ENSP00000273588	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	het	275
2	3	49454277	G	A	ENST00000273588	ENSG00000145020	49454211	49460186	ENSP00000273588	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	hom	61
3	3	49454277	G	A	ENST00000395338	ENSG00000145020	49454211	49460186	ENSP00000378747	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	het	275
4	3	49454277	G	A	ENST00000395338	ENSG00000145020	49454211	49460186	ENSP00000378747	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	hom	61
5	3	49454277	G	A	ENST00000427987	ENSG00000145020	49454211	49460186	ENSP00000403821	AMT	-1	-	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	het	275
6	3	49454277	G	A	ENST00000427987	ENSG00000145020	49454211	49460186	ENSP00000403821	AMT	-1	-	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	hom	61
7	3	49454277	G	A	ENST00000458307	ENSG00000145020	49454211	49460186	ENSP00000415619	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	het	275
8	3	49454277	G	A	ENST00000458307	ENSG00000145020	49454211	49460186	ENSP00000415619	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	hom	61
9	3	49454277	G	A	ENST00000465925	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.3206C>T	p.P1069L	non-syn	rs10640	0.29352	-	-	-	-	-	het	275
10	3	49454277	G	A	ENST00000465925	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.3206C>T	p.P1069L	non-syn	rs10640	0.29352	-	-	-	-	-	hom	61
11	3	49454277	G	A	ENST00000476226	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.1973C>T	p.P658L	non-syn	rs10640	0.29352	-	-	-	-	-	het	275
12	3	49454277	G	A	ENST00000476226	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.1973C>T	p.P658L	non-syn	rs10640	0.29352	-	-	-	-	-	hom	61
13	3	49454277	G	A	ENST00000538581	ENSG00000145020	49454211	49460186	ENSP00000443200	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	het	275
14	3	49454277	G	A	ENST00000538581	ENSG00000145020	49454211	49460186	ENSP00000443200	AMT	-1	GCST_HUMAN	-	-	3'_UTR	rs10640	0.29352	-	-	-	-	-	hom	61
15	3	49454426	A	G	ENST00000273588	ENSG00000145020	49454211	49460186	ENSP00000273588	AMT	-1	GCST_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	3	49454426	A	G	ENST00000395338	ENSG00000145020	49454211	49460186	ENSP00000378747	AMT	-1	GCST_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	3	49454426	A	G	ENST00000427987	ENSG00000145020	49454211	49460186	ENSP00000403821	AMT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	3	49454426	A	G	ENST00000458307	ENSG00000145020	49454211	49460186	ENSP00000415619	AMT	-1	GCST_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	3	49454426	A	G	ENST00000465925	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.3057T>C	p.H1019H	syn	NA	-	-	-	-	-	-	het	1
20	3	49454426	A	G	ENST00000476226	ENSG00000145020	49454211	49460186	-	AMT	-1	-	c.1824T>C	p.H608H	syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding AMT 3:49454211..49460186 region Gbrowse