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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 ALDH4A1:

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
ENSG00000159423	ALDH4A1	1	0	3	ENSG00000159423	ENST00000290597	ENSP00000290597	aldehyde dehydrogenase 4 family, member A1 [Source:HGNC Symbol;Acc:406]	1	19197926	19229275	-1	p36.13	19197926	19229047	ALDH4A1	ALDH4A1-002	HGNC Symbol	HGNC transcript name	6	55.04	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8659	406	ALDH4A1	NM_170726	27511

MSeqDR Master Exome Data Set M1: 396 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	1	19197983	G	A	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	19197983	G	A	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	1	19197983	G	A	ENST00000538309	ENSG00000159423	19197926	19229275	ENSP00000442988	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	19197983	G	A	ENST00000538839	ENSG00000159423	19197926	19229275	ENSP00000446071	ALDH4A1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	1	19198064	T	G	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	het	237
6	1	19198064	T	G	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	hom	40
7	1	19198064	T	G	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	het	237
8	1	19198064	T	G	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	hom	40
9	1	19198064	T	G	ENST00000538309	ENSG00000159423	19197926	19229275	ENSP00000442988	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	het	237
10	1	19198064	T	G	ENST00000538309	ENSG00000159423	19197926	19229275	ENSP00000442988	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	hom	40
11	1	19198064	T	G	ENST00000538839	ENSG00000159423	19197926	19229275	ENSP00000446071	ALDH4A1	-1	-	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	het	237
12	1	19198064	T	G	ENST00000538839	ENSG00000159423	19197926	19229275	ENSP00000446071	ALDH4A1	-1	-	-	-	3'_UTR	rs1138333	0.2621	-	-	-	-	-	hom	40
13	1	19198080	A	G	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	1	19198080	A	G	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	1	19198080	A	G	ENST00000538309	ENSG00000159423	19197926	19229275	ENSP00000442988	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	1	19198080	A	G	ENST00000538839	ENSG00000159423	19197926	19229275	ENSP00000446071	ALDH4A1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	1	19198100	C	G	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138328	0.2402	-	-	-	-	-	het	235
18	1	19198100	C	G	ENST00000290597	ENSG00000159423	19197926	19229275	ENSP00000290597	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138328	0.2402	-	-	-	-	-	hom	39
19	1	19198100	C	G	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138328	0.2402	-	-	-	-	-	het	235
20	1	19198100	C	G	ENST00000375341	ENSG00000159423	19197926	19229275	ENSP00000364490	ALDH4A1	-1	AL4A1_HUMAN	-	-	3'_UTR	rs1138328	0.2402	-	-	-	-	-	hom	39

** 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 ALDH4A1 1:19197926..19229275 region Gbrowse