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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 ABAT:

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
ENSG00000183044	ABAT	1	0	10	ENSG00000183044	ENST00000268251	ENSP00000268251	4-aminobutyrate aminotransferase [Source:HGNC Symbol;Acc:23]	16	8768422	8878432	1	p13.2	8768422	8878432	ABAT	ABAT-001	HGNC Symbol	HGNC transcript name	16	47.35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	18	23	ABAT	NM_020686	27514

MSeqDR Master Exome Data Set M1: 538 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	16	8807140	T	+A	ENST00000396600	ENSG00000183044	8768422	8878432	ENSP00000379845	ABAT	1	GABT_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	16	8807140	T	+A	ENST00000566590	ENSG00000183044	8768422	8878432	ENSP00000455198	ABAT	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	16	8807315	C	T	ENST00000396600	ENSG00000183044	8768422	8878432	ENSP00000379845	ABAT	1	GABT_HUMAN	-	-	5'_UTR	rs7188782	0.8062	-	-	-	-	-	het	2
4	16	8807315	C	T	ENST00000396600	ENSG00000183044	8768422	8878432	ENSP00000379845	ABAT	1	GABT_HUMAN	-	-	5'_UTR	rs7188782	0.8062	-	-	-	-	-	hom	3
5	16	8807315	C	T	ENST00000563215	ENSG00000183044	8768422	8878432	-	ABAT	1	-	c.97C>T	p.L33F	non-syn	rs7188782	0.8062	-	-	-	-	-	het	2
6	16	8807315	C	T	ENST00000563215	ENSG00000183044	8768422	8878432	-	ABAT	1	-	c.97C>T	p.L33F	non-syn	rs7188782	0.8062	-	-	-	-	-	hom	3
7	16	8807315	C	T	ENST00000566590	ENSG00000183044	8768422	8878432	ENSP00000455198	ABAT	1	-	-	-	5'_UTR	rs7188782	0.8062	-	-	-	-	-	het	2
8	16	8807315	C	T	ENST00000566590	ENSG00000183044	8768422	8878432	ENSP00000455198	ABAT	1	-	-	-	5'_UTR	rs7188782	0.8062	-	-	-	-	-	hom	3
9	16	8807571	C	T	ENST00000396600	ENSG00000183044	8768422	8878432	ENSP00000379845	ABAT	1	GABT_HUMAN	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	hom	2
10	16	8807571	C	T	ENST00000396600	ENSG00000183044	8768422	8878432	ENSP00000379845	ABAT	1	GABT_HUMAN	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	het	9
11	16	8807571	C	T	ENST00000561870	ENSG00000183044	8768422	8878432	ENSP00000456267	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	hom	2
12	16	8807571	C	T	ENST00000561870	ENSG00000183044	8768422	8878432	ENSP00000456267	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	het	9
13	16	8807571	C	T	ENST00000563215	ENSG00000183044	8768422	8878432	-	ABAT	1	-	c.353C>T	p.P118L	non-syn	rs12447079	0.0578	-	-	-	-	-	hom	2
14	16	8807571	C	T	ENST00000563215	ENSG00000183044	8768422	8878432	-	ABAT	1	-	c.353C>T	p.P118L	non-syn	rs12447079	0.0578	-	-	-	-	-	het	9
15	16	8807571	C	T	ENST00000565016	ENSG00000183044	8768422	8878432	ENSP00000454415	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	hom	2
16	16	8807571	C	T	ENST00000565016	ENSG00000183044	8768422	8878432	ENSP00000454415	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	het	9
17	16	8807571	C	T	ENST00000566590	ENSG00000183044	8768422	8878432	ENSP00000455198	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	hom	2
18	16	8807571	C	T	ENST00000566590	ENSG00000183044	8768422	8878432	ENSP00000455198	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	het	9
19	16	8807571	C	T	ENST00000567812	ENSG00000183044	8768422	8878432	ENSP00000456330	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	hom	2
20	16	8807571	C	T	ENST00000567812	ENSG00000183044	8768422	8878432	ENSP00000456330	ABAT	1	-	-	-	5'_UTR	rs12447079	0.0578	-	-	-	-	-	het	9

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Transcripts and variants in the surrounding ABAT 16:8768422..8878432 region Gbrowse