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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 ABCA4:

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
ENSG00000198691	ABCA4	0	0	572	ENSG00000198691	ENST00000370225	ENSP00000359245	ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]	1	94458393	94586688	-1	p22.1	94458393	94586688	ABCA4	ABCA4-001	HGNC Symbol	HGNC transcript name	9	46.44	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	24	34	ABCA4	NM_000350	27511

MSeqDR Master Exome Data Set M1: 389 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	1	94458421	T	C	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs3747961	0.1397	-	lod=21:295	-	-	-	het	83
2	1	94458421	T	C	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs3747961	0.1397	-	lod=21:295	-	-	-	hom	3
3	1	94458494	C	G	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	1	94458657	C	T	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs55665437	0.00552	-	-	-	-	-	het	11
5	1	94458659	C	T	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs76201551	0.0285	-	-	-	-	-	het	3
6	1	94458738	C	A	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs201160433	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	1
7	1	94458738	C	A	ENST00000535881	ENSG00000198691	94458393	94586688	ENSP00000443203	ABCA4	-1	-	-	-	3'_UTR	rs201160433	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	1
8	1	94458738	C	A	ENST00000536513	ENSG00000198691	94458393	94586688	ENSP00000439707	ABCA4	-1	-	-	-	3'_UTR	rs201160433	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	1
9	1	94458738	C	T	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	NA	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	2
10	1	94458738	C	T	ENST00000535881	ENSG00000198691	94458393	94586688	ENSP00000443203	ABCA4	-1	-	-	-	3'_UTR	NA	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	2
11	1	94458738	C	T	ENST00000536513	ENSG00000198691	94458393	94586688	ENSP00000439707	ABCA4	-1	-	-	-	3'_UTR	NA	-	A=1/C=3181;A=0/C=1384;A=1/C=4565	-	-	-	-	het	2
12	1	94458741	C	T	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs201835773	-	T=3/C=7161;T=0/C=3136;T=3/C=10297	-	-	-	-	het	1
13	1	94458741	C	T	ENST00000535881	ENSG00000198691	94458393	94586688	ENSP00000443203	ABCA4	-1	-	-	-	3'_UTR	rs201835773	-	T=3/C=7161;T=0/C=3136;T=3/C=10297	-	-	-	-	het	1
14	1	94458741	C	T	ENST00000536513	ENSG00000198691	94458393	94586688	ENSP00000439707	ABCA4	-1	-	-	-	3'_UTR	rs201835773	-	T=3/C=7161;T=0/C=3136;T=3/C=10297	-	-	-	-	het	1
15	1	94458767	G	T	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs200946608	-	T=4/G=8596;T=0/G=4406;T=4/G=13002	lod=13:243	-	-	-	het	3
16	1	94458767	G	T	ENST00000535881	ENSG00000198691	94458393	94586688	ENSP00000443203	ABCA4	-1	-	-	-	3'_UTR	rs200946608	-	T=4/G=8596;T=0/G=4406;T=4/G=13002	lod=13:243	-	-	-	het	3
17	1	94458767	G	T	ENST00000536513	ENSG00000198691	94458393	94586688	ENSP00000439707	ABCA4	-1	-	-	-	3'_UTR	rs200946608	-	T=4/G=8596;T=0/G=4406;T=4/G=13002	lod=13:243	-	-	-	het	3
18	1	94458770	G	A	ENST00000370225	ENSG00000198691	94458393	94586688	ENSP00000359245	ABCA4	-1	ABCA4_HUMAN	-	-	3'_UTR	rs200401067	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	1
19	1	94458770	G	A	ENST00000535881	ENSG00000198691	94458393	94586688	ENSP00000443203	ABCA4	-1	-	-	-	3'_UTR	rs200401067	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	1
20	1	94458770	G	A	ENST00000536513	ENSG00000198691	94458393	94586688	ENSP00000439707	ABCA4	-1	-	-	-	3'_UTR	rs200401067	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	1

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Transcripts and variants in the surrounding ABCA4 1:94458393..94586688 region Gbrowse