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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 ALDH18A1:

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
ENSG00000059573	ALDH18A1	1	0	18	ENSG00000059573	ENST00000371224	ENSP00000360268	aldehyde dehydrogenase 18 family, member A1 [Source:HGNC Symbol;Acc:9722]	10	97365696	97416463	-1	q24.1	97365696	97416463	ALDH18A1	ALDH18A1-001	HGNC Symbol	HGNC transcript name	5	43.15	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5832	9722	ALDH18A1	NM_002860	27525

MSeqDR Master Exome Data Set M1: 104 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	10	97365820	G	A	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs4037	0.34007	-	lod=46:378	-	-	-	het	246
2	10	97365820	G	A	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs4037	0.34007	-	lod=46:378	-	-	-	hom	83
3	10	97365820	G	A	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs4037	0.34007	-	lod=46:378	-	-	-	het	246
4	10	97365820	G	A	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs4037	0.34007	-	lod=46:378	-	-	-	hom	83
5	10	97365908	C	T	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs41291562	0.01616	-	-	-	-	-	het	17
6	10	97365908	C	T	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs41291562	0.01616	-	-	-	-	-	het	17
7	10	97366075	A	T	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	10	97366075	A	T	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	10	97366107	A	G	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs8758	0.35093	-	-	-	-	-	hom	83
10	10	97366107	A	G	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs8758	0.35093	-	-	-	-	-	het	247
11	10	97366107	A	G	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs8758	0.35093	-	-	-	-	-	hom	83
12	10	97366107	A	G	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs8758	0.35093	-	-	-	-	-	het	247
13	10	97366292	T	C	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs943341	0.0311	-	-	-	-	-	het	2
14	10	97366292	T	C	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs943341	0.0311	-	-	-	-	-	het	2
15	10	97366364	C	T	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs1053905	0.51445	-	-	-	-	-	het	366
16	10	97366364	C	T	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs1053905	0.51445	-	-	-	-	-	hom	235
17	10	97366364	C	T	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs1053905	0.51445	-	-	-	-	-	het	366
18	10	97366364	C	T	ENST00000371224	ENSG00000059573	97365696	97416463	ENSP00000360268	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs1053905	0.51445	-	-	-	-	-	hom	235
19	10	97366379	G	A	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs76824727	0.1852	-	-	-	-	-	het	4
20	10	97366379	G	A	ENST00000371221	ENSG00000059573	97365696	97416463	ENSP00000360265	ALDH18A1	-1	P5CS_HUMAN	-	-	3'_UTR	rs76824727	0.1852	-	-	-	-	-	hom	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ALDH18A1 10:97365696..97416463 region Gbrowse