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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 ABCA1:

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
ENSG00000165029	ABCA1	0	0	20	ENSG00000165029	ENST00000374736	ENSP00000363868	ATP-binding cassette, sub-family A (ABC1), member 1 [Source:HGNC Symbol;Acc:29]	9	107543283	107690518	-1	q31.1	107543283	107690518	ABCA1	ABCA1-002	HGNC Symbol	HGNC transcript name	4	43.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	19	29	ABCA1	NM_005502	27518

MSeqDR Master Exome Data Set M1: 232 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	9	107543342	A	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs79840023	-	-	lod=332:590	-	-	-	het	1
2	9	107543345	A	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs148080589	0.0101	-	lod=332:590	-	-	-	het	1
3	9	107543376	T	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs10991377	0.03226	-	lod=332:590	-	-	-	hom	2
4	9	107543376	T	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs10991377	0.03226	-	lod=332:590	-	-	-	het	42
5	9	107543509	G	A	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs190539368	0.00182	-	lod=772:680	-	-	-	het	2
6	9	107543513	A	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs77877520	0.0227	-	lod=772:680	-	-	-	het	2
7	9	107543567	T	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs181614282	0.00091	-	-	-	-	-	het	5
8	9	107543696	T	-AAC	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs139196614	-	-	lod=15:259	-	-	-	het	108
9	9	107543696	T	-AAC	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs139196614	-	-	lod=15:259	-	-	-	hom	5
10	9	107543696	T	-AA	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
11	9	107543891	C	T	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs75141626	0.0556	-	lod=29:329	-	-	-	hom	1
12	9	107543891	C	T	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs75141626	0.0556	-	lod=29:329	-	-	-	het	3
13	9	107544110	A	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	9	107544139	T	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	3
15	9	107544268	A	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	9	107544285	T	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs4149341	0.2085	-	-	-	-	-	het	178
17	9	107544285	T	C	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs4149341	0.2085	-	-	-	-	-	hom	26
18	9	107544306	C	T	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	rs139730819	0.0011	-	-	-	-	-	het	1
19	9	107544374	A	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	9	107544467	T	G	ENST00000374736	ENSG00000165029	107543283	107690518	ENSP00000363868	ABCA1	-1	ABCA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding ABCA1 9:107543283..107690518 region Gbrowse