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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 NOTCH1:

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
ENSG00000148400	NOTCH1	0	0	116	ENSG00000148400	ENST00000277541	ENSP00000277541	notch 1 [Source:HGNC Symbol;Acc:7881]	9	139388896	139440314	-1	q34.3	139388896	139440314	NOTCH1	NOTCH1-001	HGNC Symbol	HGNC transcript name	3	63.39	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4851	7881	NOTCH1	NM_017617	27518

MSeqDR Master Exome Data Set M1: 222 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	139388942	G	-A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	9	139389039	A	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs73668309	0.003	-	lod=18:278	-	-	-	het	1
3	9	139389098	C	A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
4	9	139389098	C	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	9	139389184	A	G	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs6563	0.5716	-	-	-	-	-	het	305
6	9	139389184	A	G	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs6563	0.5716	-	-	-	-	-	hom	144
7	9	139389214	C	A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	9	139389432	C	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs3124998	0.1717	-	-	-	-	-	het	25
9	9	139389554	C	G	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs116716394	0.0186	-	-	-	-	-	het	1
10	9	139389584	G	A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs114534583	0.013	-	-	-	-	-	het	3
11	9	139389627	A	G	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	9	139389718	G	A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	9	139389729	C	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	9	139389974	T	G	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	9	139390038	G	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	9	139390073	G	A	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	9	139390202	G	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=119:480	-	-	-	het	2
18	9	139390387	T	C	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs11574912	0.0479	-	-	-	-	-	het	8
19	9	139390397	C	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs3124591	0.7953	-	-	-	-	-	het	308
20	9	139390397	C	T	ENST00000277541	ENSG00000148400	139388896	139440314	ENSP00000277541	NOTCH1	-1	NOTC1_HUMAN	-	-	3'_UTR	rs3124591	0.7953	-	-	-	-	-	hom	186

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Transcripts and variants in the surrounding NOTCH1 9:139388896..139440314 region Gbrowse