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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 GABRG2:

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
ENSG00000113327	GABRG2	0	0	64	ENSG00000113327	ENST00000356592	ENSP00000349000	gamma-aminobutyric acid (GABA) A receptor, gamma 2 [Source:HGNC Symbol;Acc:4087]	5	161494546	161582542	1	q34	161494546	161582542	GABRG2	GABRG2-001	HGNC Symbol	HGNC transcript name	7	35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2566	4087	GABRG2	NM_198904	27527

MSeqDR Master Exome Data Set M1: 140 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	5	161494599	A	-AAAC	ENST00000356592	ENSG00000113327	161494546	161582542	ENSP00000349000	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	5	161494705	T	C	ENST00000356592	ENSG00000113327	161494546	161582542	ENSP00000349000	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	5	161494852	C	T	ENST00000356592	ENSG00000113327	161494546	161582542	ENSP00000349000	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	het	95
4	5	161494852	C	T	ENST00000356592	ENSG00000113327	161494546	161582542	ENSP00000349000	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	hom	3
5	5	161494852	C	T	ENST00000361925	ENSG00000113327	161494546	161582542	ENSP00000354651	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	het	95
6	5	161494852	C	T	ENST00000361925	ENSG00000113327	161494546	161582542	ENSP00000354651	GABRG2	1	GBRG2_HUMAN	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	hom	3
7	5	161494852	C	T	ENST00000414552	ENSG00000113327	161494546	161582542	ENSP00000410732	GABRG2	1	-	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	het	95
8	5	161494852	C	T	ENST00000414552	ENSG00000113327	161494546	161582542	ENSP00000410732	GABRG2	1	-	-	-	5'_UTR	rs3219203	0.06134	-	lod=263:565	-	-	-	hom	3
9	5	161510562	A	G	ENST00000393933	ENSG00000113327	161494546	161582542	ENSP00000377510	GABRG2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	5	161510562	A	G	ENST00000523372	ENSG00000113327	161494546	161582542	ENSP00000430124	GABRG2	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	5	161510607	A	C	ENST00000393933	ENSG00000113327	161494546	161582542	ENSP00000377510	GABRG2	1	-	-	-	5'_UTR	rs62384031	0.06089	-	lod=16:265	-	-	-	het	92
12	5	161510607	A	C	ENST00000393933	ENSG00000113327	161494546	161582542	ENSP00000377510	GABRG2	1	-	-	-	5'_UTR	rs62384031	0.06089	-	lod=16:265	-	-	-	hom	3
13	5	161510607	A	C	ENST00000523372	ENSG00000113327	161494546	161582542	ENSP00000430124	GABRG2	1	-	-	-	3'_UTR	rs62384031	0.06089	-	lod=16:265	-	-	-	het	92
14	5	161510607	A	C	ENST00000523372	ENSG00000113327	161494546	161582542	ENSP00000430124	GABRG2	1	-	-	-	3'_UTR	rs62384031	0.06089	-	lod=16:265	-	-	-	hom	3
15	5	161520969	T	A	ENST00000356592	ENSG00000113327	161494546	161582542	ENSP00000349000	GABRG2	1	GBRG2_HUMAN	c.243T>A	p.L81L	syn	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2
16	5	161520969	T	A	ENST00000361925	ENSG00000113327	161494546	161582542	ENSP00000354651	GABRG2	1	GBRG2_HUMAN	c.243T>A	p.L81L	syn	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2
17	5	161520969	T	A	ENST00000393933	ENSG00000113327	161494546	161582542	ENSP00000377510	GABRG2	1	-	-	-	5'_UTR	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2
18	5	161520969	T	A	ENST00000414552	ENSG00000113327	161494546	161582542	ENSP00000410732	GABRG2	1	-	c.243T>A	p.L81L	syn	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2
19	5	161520969	T	A	ENST00000522990	ENSG00000113327	161494546	161582542	ENSP00000430732	GABRG2	1	-	c.243T>A	p.L81L	syn	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2
20	5	161520969	T	A	ENST00000523372	ENSG00000113327	161494546	161582542	ENSP00000430124	GABRG2	1	-	-	-	3'_UTR	rs143295869	-	A=4/T=8596;A=0/T=4406;A=4/T=13002	lod=266:566	-	-	-	het	2

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Transcripts and variants in the surrounding GABRG2 5:161494546..161582542 region Gbrowse