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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 NF1:

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
ENSG00000196712	NF1	0	0	1113	ENSG00000196712	ENST00000468273	ENSP00000464702	neurofibromin 1 [Source:HGNC Symbol;Acc:7765]	17	29421945	29709134	1	q11.2	29685566	29687974	NF1	NF1-013	HGNC Symbol	HGNC transcript name	25	37.62	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	101930150	7765	NF1		27509

MSeqDR Master Exome Data Set M1: 695 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	17	29421946	A	G	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	2
2	17	29421946	A	G	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	2
3	17	29421946	A	G	ENST00000487476	ENSG00000196712	29421945	29709134	-	NF1	1	-	c.2A>G	p.N1S	non-syn	NA	-	-	lod=770:680	-	-	-	het	2
4	17	29421972	C	A	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	3
5	17	29421972	C	A	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	3
6	17	29421972	C	A	ENST00000487476	ENSG00000196712	29421945	29709134	-	NF1	1	-	c.28C>A	p.P10T	non-syn	NA	-	-	lod=770:680	-	-	-	het	3
7	17	29422086	C	T	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	1
8	17	29422086	C	T	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	1
9	17	29422086	C	T	ENST00000431387	ENSG00000196712	29421945	29709134	ENSP00000412921	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	1
10	17	29422086	C	T	ENST00000487476	ENSG00000196712	29421945	29709134	-	NF1	1	-	c.142C>T	p.L48F	non-syn	NA	-	-	lod=770:680	-	-	-	het	1
11	17	29422091	C	T	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	4
12	17	29422091	C	T	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	4
13	17	29422091	C	T	ENST00000431387	ENSG00000196712	29421945	29709134	ENSP00000412921	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=770:680	-	-	-	het	4
14	17	29422091	C	T	ENST00000487476	ENSG00000196712	29421945	29709134	-	NF1	1	-	c.147C>T	p.P49P	syn	NA	-	-	lod=770:680	-	-	-	het	4
15	17	29422219	G	C	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	17	29422219	G	C	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	17	29422219	G	C	ENST00000431387	ENSG00000196712	29421945	29709134	ENSP00000412921	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	17	29422219	G	C	ENST00000487476	ENSG00000196712	29421945	29709134	-	NF1	1	-	c.275G>C	p.R92T	non-syn	NA	-	-	-	-	-	-	het	1
19	17	29422306	G	C	ENST00000356175	ENSG00000196712	29421945	29709134	ENSP00000348498	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=321:586	-	-	-	het	5
20	17	29422306	G	C	ENST00000358273	ENSG00000196712	29421945	29709134	ENSP00000351015	NF1	1	NF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=321:586	-	-	-	het	5

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Transcripts and variants in the surrounding NF1 17:29421945..29709134 region Gbrowse