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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 ABCC9:

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
ENSG00000069431	ABCC9	1	2	148	ENSG00000069431	ENST00000261200	ENSP00000261200	ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:HGNC Symbol;Acc:60]	12	21950335	22094336	-1	p12.1	21950335	22089608	ABCC9	ABCC9-001	HGNC Symbol	HGNC transcript name	6	35.98	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10060	60	ABCC9	NM_020297	27519

MSeqDR Master Exome Data Set M1: 246 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	12	21950489	T	-ATAGGC	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	rs200165311	-	-	-	-	-	-	het	4
2	12	21951107	A	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	rs117295320	0.02306	-	-	-	-	-	hom	1
3	12	21951107	A	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	rs117295320	0.02306	-	-	-	-	-	het	8
4	12	21952206	G	+A	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	12	21952938	T	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	12	21953768	G	A	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	rs146747782	0.00574	-	-	-	-	-	het	7
7	12	21953773	A	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	3
8	12	21953773	A	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	12	21953831	T	C	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	12	21953873	C	-TG	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	12	21953959	A	G	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	3'_UTR	rs114906131	0.0186	G=0/A=8600;G=129/A=4277;G=129/A=12877	-	-	-	-	het	4
12	12	21953990	G	T	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	c.4638C>A	p.R1546R	syn	NA	-	A=1/G=8599;A=2/G=4404;A=3/G=13003	lod=158:510	-	-	-	het	1
13	12	21958185	C	+A	ENST00000261201	ENSG00000069431	21950335	22094336	ENSP00000261201	ABCC9	-1	ABCC9_HUMAN	c.4572_4573insT	p.V1525NA	non-syn	NA	-	-	lod=293:576	-	-	-	het	2
14	12	21958185	C	+A	ENST00000345162	ENSG00000069431	21950335	22094336	ENSP00000261202	ABCC9	-1	-	c.4464_4465insT	p.V1489NA	non-syn	NA	-	-	lod=293:576	-	-	-	het	2
15	12	21958185	C	+A	ENST00000544039	ENSG00000069431	21950335	22094336	ENSP00000440521	ABCC9	-1	-	c.3453_3454insT	p.V1152NA	non-syn	NA	-	-	lod=293:576	-	-	-	het	2
16	12	21958242	G	A	ENST00000261201	ENSG00000069431	21950335	22094336	ENSP00000261201	ABCC9	-1	ABCC9_HUMAN	c.4516C>T	p.R1506C	non-syn	NA	-	-	lod=163:514	DAMAGING	NA	-	het	1
17	12	21958242	G	A	ENST00000345162	ENSG00000069431	21950335	22094336	ENSP00000261202	ABCC9	-1	-	c.4408C>T	p.R1470C	non-syn	NA	-	-	lod=163:514	DAMAGING	NA	-	het	1
18	12	21958242	G	A	ENST00000544039	ENSG00000069431	21950335	22094336	ENSP00000440521	ABCC9	-1	-	c.3397C>T	p.R1133C	non-syn	NA	-	-	lod=163:514	DAMAGING	NA	-	het	1
19	12	21958998	C	-AA	ENST00000261200	ENSG00000069431	21950335	22094336	ENSP00000261200	ABCC9	-1	ABCC9_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
20	12	21958998	C	-AA	ENST00000261201	ENSG00000069431	21950335	22094336	ENSP00000261201	ABCC9	-1	ABCC9_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ABCC9 12:21950335..22094336 region Gbrowse