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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 ENSG00000169692:

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
ENSG00000169692	AGPAT2	0	0	15	ENSG00000169692	ENST00000371694	ENSP00000360759	1-acylglycerol-3-phosphate O-acyltransferase 2 [Source:HGNC Symbol;Acc:325]	9	139567595	139581875	-1	q34.3	139567595	139581850	AGPAT2	AGPAT2-002	HGNC Symbol	HGNC transcript name	5	62.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10555	325	AGPAT2	NM_001012727	27518

MSeqDR Master Exome Data Set M1: 169 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	139567617	T	+A	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	lod=12:235	-	-	-	het	1
2	9	139567617	T	+A	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	lod=12:235	-	-	-	het	1
3	9	139567617	T	+A	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	lod=12:235	-	-	-	het	1
4	9	139567669	G	A	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	hom	1
5	9	139567669	G	A	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	het	18
6	9	139567669	G	A	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	hom	1
7	9	139567669	G	A	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	het	18
8	9	139567669	G	A	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	hom	1
9	9	139567669	G	A	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs138670030	0.0473	-	-	-	-	-	het	18
10	9	139567687	G	A	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	het	229
11	9	139567687	G	A	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	hom	40
12	9	139567687	G	A	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	het	229
13	9	139567687	G	A	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	hom	40
14	9	139567687	G	A	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	het	229
15	9	139567687	G	A	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs10320	0.4799	-	-	-	-	-	hom	40
16	9	139567692	C	T	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	9	139567692	C	T	ENST00000371696	ENSG00000169692	139567595	139581875	ENSP00000360761	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	9	139567692	C	T	ENST00000538402	ENSG00000169692	139567595	139581875	ENSP00000438919	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	9	139567762	G	C	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs6951	0.8116	-	-	-	-	-	het	179
20	9	139567762	G	C	ENST00000371694	ENSG00000169692	139567595	139581875	ENSP00000360759	AGPAT2	-1	PLCB_HUMAN	-	-	3'_UTR	rs6951	0.8116	-	-	-	-	-	hom	452

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Transcripts and variants in the surrounding AGPAT2 9:139567595..139581875 region Gbrowse