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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 AFG3L2:

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
ENSG00000141385	AFG3L2	1	24	32	ENSG00000141385	ENST00000269143	ENSP00000269143	AFG3-like AAA ATPase 2 [Source:HGNC Symbol;Acc:315]	18	12328943	12377313	-1	p11.21	12328943	12377313	AFG3L2	AFG3L2-001	HGNC Symbol	HGNC transcript name	4	44.7	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10939	315	AFG3L2	NM_006796	27512

MSeqDR Master Exome Data Set M1: 57 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	18	12329253	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs79884272	0.0323	-	-	-	-	-	hom	1
2	18	12329253	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs79884272	0.0323	-	-	-	-	-	het	4
3	18	12329321	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	18	12329327	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	18	12329374	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	18	12329462	C	G	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	18	12329536	C	G	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs1129115	0.3457	G=1875/C=6725;G=1730/C=2676;G=3605/C=9401	-	-	-	-	het	344
8	18	12329536	C	G	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs1129115	0.3457	G=1875/C=6725;G=1730/C=2676;G=3605/C=9401	-	-	-	-	hom	54
9	18	12329562	C	T	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs113981080	0.0466	T=6/C=8594;T=282/C=4124;T=288/C=12718	lod=27:321	-	-	-	hom	1
10	18	12329562	C	T	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	3'_UTR	rs113981080	0.0466	T=6/C=8594;T=282/C=4124;T=288/C=12718	lod=27:321	-	-	-	het	9
11	18	12329644	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	c.2314C>T	p.L772F	non-syn	rs117182113	0.00387	A=14/G=8586;A=5/G=4401;A=19/G=12987	lod=19:284	-	D	-	het	9
12	18	12329776	G	A	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	c.2182C>T	p.L728F	non-syn	NA	-	-	lod=96:457	-	B	-	het	1
13	18	12337322	C	T	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	+18bp 5'_splice_site	rs117096851	0.01526	T=141/C=8459;T=16/C=4390;T=157/C=12849	-	-	-	-	het	14
14	18	12337322	C	T	ENST00000269143	ENSG00000141385	12328943	12377313	ENSP00000269143	AFG3L2	-1	AFG32_HUMAN	-	-	+18bp 5'_splice_site	rs117096851	0.01526	T=141/C=8459;T=16/C=4390;T=157/C=12849	-	-	-	-	hom	2
15	18	12343871	A	G	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.432T>C	p.S144S	syn	rs4797677	0.70605	-	-	-	-	-	het	2
16	18	12343871	A	G	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.432T>C	p.S144S	syn	rs4797677	0.70605	-	-	-	-	-	hom	12
17	18	12343969	A	C	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.334T>G	p.*112E	non-syn	rs3888824	0.02675	-	-	-	-	-	hom	1
18	18	12343969	A	C	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.334T>G	p.*112E	non-syn	rs3888824	0.02675	-	-	-	-	-	het	15
19	18	12344093	C	T	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.210G>A	p.W70*	non-syn	NA	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	-	-	-	-	het	5
20	18	12344093	C	T	ENST00000588893	ENSG00000141385	12328943	12377313	-	AFG3L2	-1	-	c.210G>A	p.W70*	non-syn	NA	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	-	-	-	-	hom	1

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Transcripts and variants in the surrounding AFG3L2 18:12328943..12377313 region Gbrowse