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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 ACADVL:

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
ENSG00000072778	ACADVL	1	674	102	ENSG00000072778	ENST00000578711		acyl-CoA dehydrogenase, very long chain [Source:HGNC Symbol;Acc:92]	17	7120444	7128592	1	p13.1	7126824	7128555	ACADVL	ACADVL-003	HGNC Symbol	HGNC transcript name	39	58.5	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	37	92	ACADVL		27509

MSeqDR Master Exome Data Set M1: 551 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	17	7120483	G	A	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	c.19G>A	p.A7T	non-syn	NA	-	-	lod=1666:762	-	-	-	het	1
2	17	7121058	A	G	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	c.52A>G	p.I18V	non-syn	NA	-	-	-	-	-	-	het	2
3	17	7121105	C	A	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	c.99C>A	p.G33G	syn	rs72839706	0.0314	-	lod=14:251	-	-	-	het	32
4	17	7121117	G	T	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	c.111G>T	p.A37A	syn	NA	-	-	-	-	-	-	het	2
5	17	7121138	G	C	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	-	-	+1bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
6	17	7121147	C	G	ENST00000543245	ENSG00000072778	7120444	7128592	ENSP00000438689	ACADVL	1	ACADV_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
7	17	7123194	C	T	ENST00000322910	ENSG00000072778	7120444	7128592	ENSP00000325395	ACADVL	1	-	-	-	5'_UTR	rs78514016	0.009	-	lod=22:300	DAMAGING	-	-	het	9
8	17	7123194	C	T	ENST00000350303	ENSG00000072778	7120444	7128592	ENSP00000344152	ACADVL	1	ACADV_HUMAN	-	-	5'_UTR	rs78514016	0.009	-	lod=22:300	DAMAGING	-	-	het	9
9	17	7123194	C	T	ENST00000356839	ENSG00000072778	7120444	7128592	ENSP00000349297	ACADVL	1	ACADV_HUMAN	-	-	5'_UTR	rs78514016	0.009	-	lod=22:300	DAMAGING	-	-	het	9
10	17	7123194	C	T	ENST00000582356	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.16C>T	p.P6S	non-syn	rs78514016	0.009	-	lod=22:300	DAMAGING	-	-	het	9
11	17	7123194	C	T	ENST00000583312	ENSG00000072778	7120444	7128592	ENSP00000467920	ACADVL	1	-	-	-	5'_UTR	rs78514016	0.009	-	lod=22:300	DAMAGING	-	-	het	9
12	17	7123231	G	+T	ENST00000322910	ENSG00000072778	7120444	7128592	ENSP00000325395	ACADVL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	17	7123231	G	+T	ENST00000350303	ENSG00000072778	7120444	7128592	ENSP00000344152	ACADVL	1	ACADV_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	17	7123231	G	+T	ENST00000356839	ENSG00000072778	7120444	7128592	ENSP00000349297	ACADVL	1	ACADV_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	17	7123231	G	+T	ENST00000577191	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.5_6insT	p.R2NA	non-syn	NA	-	-	-	-	-	-	het	1
16	17	7123231	G	+T	ENST00000577857	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.18_19insT	p.P7NA	non-syn	NA	-	-	-	-	-	-	het	1
17	17	7123231	G	+T	ENST00000578269	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.35_36insT	p.R12NA	non-syn	NA	-	-	-	-	-	-	het	1
18	17	7123231	G	+T	ENST00000579286	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.35_36insT	p.R12NA	non-syn	NA	-	-	-	-	-	-	het	1
19	17	7123231	G	+T	ENST00000580263	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.18_19insT	p.P7NA	non-syn	NA	-	-	-	-	-	-	het	1
20	17	7123231	G	+T	ENST00000582056	ENSG00000072778	7120444	7128592	-	ACADVL	1	-	c.18_19insT	p.P7NA	non-syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ACADVL 17:7120444..7128592 region Gbrowse