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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 GAA:

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
ENSG00000171298	GAA	1	0	124	ENSG00000171298	ENST00000570803	ENSP00000460543	glucosidase, alpha; acid [Source:HGNC Symbol;Acc:4065]	17	78075355	78093678	1	q25.3	78075355	78081517	GAA	GAA-005	HGNC Symbol	HGNC transcript name	9	58.33	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2548	4065	GAA		27509

MSeqDR Master Exome Data Set M1: 335 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	78075908	G	C	ENST00000574376	ENSG00000171298	78075355	78093678	-	GAA	1	-	c.328G>C	p.V110L	non-syn	rs4889961	0.6767	-	-	-	-	-	hom	2
2	17	78075908	G	C	ENST00000574376	ENSG00000171298	78075355	78093678	-	GAA	1	-	c.328G>C	p.V110L	non-syn	rs4889961	0.6767	-	-	-	-	-	het	1
3	17	78078341	T	G	ENST00000302262	ENSG00000171298	78075355	78093678	ENSP00000305692	GAA	1	LYAG_HUMAN	-	-	-13bp 3'_splice_site	rs199951626	-	G=49/T=8525;G=5/T=4387;G=54/T=12912	-	-	-	HGMD	het	9
4	17	78078341	T	G	ENST00000390015	ENSG00000171298	78075355	78093678	ENSP00000374665	GAA	1	LYAG_HUMAN	-	-	-13bp 3'_splice_site	rs199951626	-	G=49/T=8525;G=5/T=4387;G=54/T=12912	-	-	-	HGMD	het	9
5	17	78078341	T	G	ENST00000570803	ENSG00000171298	78075355	78093678	ENSP00000460543	GAA	1	-	-	-	-13bp 3'_splice_site	rs199951626	-	G=49/T=8525;G=5/T=4387;G=54/T=12912	-	-	-	HGMD	het	9
6	17	78078341	T	G	ENST00000577106	ENSG00000171298	78075355	78093678	ENSP00000458306	GAA	1	-	-	-	-13bp 3'_splice_site	rs199951626	-	G=49/T=8525;G=5/T=4387;G=54/T=12912	-	-	-	HGMD	het	9
7	17	78078349	C	T	ENST00000302262	ENSG00000171298	78075355	78093678	ENSP00000305692	GAA	1	LYAG_HUMAN	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
8	17	78078349	C	T	ENST00000390015	ENSG00000171298	78075355	78093678	ENSP00000374665	GAA	1	LYAG_HUMAN	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
9	17	78078349	C	T	ENST00000570803	ENSG00000171298	78075355	78093678	ENSP00000460543	GAA	1	-	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
10	17	78078349	C	T	ENST00000577106	ENSG00000171298	78075355	78093678	ENSP00000458306	GAA	1	-	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
11	17	78078445	C	T	ENST00000302262	ENSG00000171298	78075355	78093678	ENSP00000305692	GAA	1	LYAG_HUMAN	c.60C>T	p.S20S	syn	NA	-	-	-	-	-	-	het	1
12	17	78078445	C	T	ENST00000390015	ENSG00000171298	78075355	78093678	ENSP00000374665	GAA	1	LYAG_HUMAN	c.60C>T	p.S20S	syn	NA	-	-	-	-	-	-	het	1
13	17	78078445	C	T	ENST00000570803	ENSG00000171298	78075355	78093678	ENSP00000460543	GAA	1	-	c.60C>T	p.S20S	syn	NA	-	-	-	-	-	-	het	1
14	17	78078445	C	T	ENST00000577106	ENSG00000171298	78075355	78093678	ENSP00000458306	GAA	1	-	c.60C>T	p.S20S	syn	NA	-	-	-	-	-	-	het	1
15	17	78078516	G	T	ENST00000302262	ENSG00000171298	78075355	78093678	ENSP00000305692	GAA	1	LYAG_HUMAN	c.131G>T	p.G44V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
16	17	78078516	G	T	ENST00000390015	ENSG00000171298	78075355	78093678	ENSP00000374665	GAA	1	LYAG_HUMAN	c.131G>T	p.G44V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
17	17	78078516	G	T	ENST00000570803	ENSG00000171298	78075355	78093678	ENSP00000460543	GAA	1	-	c.131G>T	p.G44V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
18	17	78078516	G	T	ENST00000577106	ENSG00000171298	78075355	78093678	ENSP00000458306	GAA	1	-	c.131G>T	p.G44V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
19	17	78078616	A	G	ENST00000302262	ENSG00000171298	78075355	78093678	ENSP00000305692	GAA	1	LYAG_HUMAN	c.231A>G	p.A77A	syn	NA	-	-	-	-	-	-	het	1
20	17	78078616	A	G	ENST00000390015	ENSG00000171298	78075355	78093678	ENSP00000374665	GAA	1	LYAG_HUMAN	c.231A>G	p.A77A	syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding GAA 17:78075355..78093678 region Gbrowse