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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 Exome Dataset

HBCR annotation for 1.10042757T>C: This variant is real-time annotated by OneStopVariant Tool as below:

The variant(s) at this 1.10042757T>C location:

This variant is not found in MSeqDR M1 exome data set!

EVS ESP6500 Exome Dataset
1.10042757T>C

This variant 1.10042757T>C is not found in EVS exome data!

MSeqDR Data Summary for the Term ..:

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
ENSG00000173614	NMNAT1	1	10	10	ENSG00000173614	ENST00000403197	ENSP00000385131	nicotinamide nucleotide adenylyltransferase 1 [Source:HGNC Symbol;Acc:17877]	1	10003486	10045559	1	p36.22	10003486	10041824	NMNAT1	NMNAT1-002	HGNC Symbol	HGNC transcript name	5	46.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	64802	17877	NMNAT1		27511

MSeqDR Master Exome Data Set M1: 100 entries from same gene 1.10042757T>C

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	10032156	G	A	ENST00000377205	ENSG00000173614	10003486	10045559	ENSP00000366410	NMNAT1	1	NMNA1_HUMAN	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	het	2
2	1	10032156	G	A	ENST00000377205	ENSG00000173614	10003486	10045559	ENSP00000366410	NMNAT1	1	NMNA1_HUMAN	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	hom	2
3	1	10032156	G	A	ENST00000403197	ENSG00000173614	10003486	10045559	ENSP00000385131	NMNAT1	1	-	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	het	2
4	1	10032156	G	A	ENST00000403197	ENSG00000173614	10003486	10045559	ENSP00000385131	NMNAT1	1	-	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	hom	2
5	1	10032156	G	A	ENST00000462686	ENSG00000173614	10003486	10045559	ENSP00000435134	NMNAT1	1	NMNA1_HUMAN	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	het	2
6	1	10032156	G	A	ENST00000462686	ENSG00000173614	10003486	10045559	ENSP00000435134	NMNAT1	1	NMNA1_HUMAN	c.25G>A	p.V9M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	hom	2
7	1	10032156	G	A	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.109G>A	p.V37M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	het	2
8	1	10032156	G	A	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.109G>A	p.V37M	non-syn	NA	-	-	lod=434:618	DAMAGING	P	-	hom	2
9	1	10032207	A	G	ENST00000377205	ENSG00000173614	10003486	10045559	ENSP00000366410	NMNAT1	1	NMNA1_HUMAN	c.76A>G	p.R26G	non-syn	NA	-	-	lod=434:618	DAMAGING	D	-	het	3
10	1	10032207	A	G	ENST00000403197	ENSG00000173614	10003486	10045559	ENSP00000385131	NMNAT1	1	-	c.76A>G	p.R26G	non-syn	NA	-	-	lod=434:618	DAMAGING	D	-	het	3
11	1	10032207	A	G	ENST00000462686	ENSG00000173614	10003486	10045559	ENSP00000435134	NMNAT1	1	NMNA1_HUMAN	c.76A>G	p.R26G	non-syn	NA	-	-	lod=434:618	DAMAGING	D	-	het	3
12	1	10032207	A	G	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.160A>G	p.R54G	non-syn	NA	-	-	lod=434:618	DAMAGING	D	-	het	3
13	1	10032249	A	G	ENST00000377205	ENSG00000173614	10003486	10045559	ENSP00000366410	NMNAT1	1	NMNA1_HUMAN	-	-	+3bp 5'_splice_site	rs181504239	0.00186	G=46/A=8554;G=5/A=4401;G=51/A=12955	lod=434:618	-	-	-	het	7
14	1	10032249	A	G	ENST00000403197	ENSG00000173614	10003486	10045559	ENSP00000385131	NMNAT1	1	-	-	-	+3bp 5'_splice_site	rs181504239	0.00186	G=46/A=8554;G=5/A=4401;G=51/A=12955	lod=434:618	-	-	-	het	7
15	1	10032249	A	G	ENST00000462686	ENSG00000173614	10003486	10045559	ENSP00000435134	NMNAT1	1	NMNA1_HUMAN	-	-	+3bp 5'_splice_site	rs181504239	0.00186	G=46/A=8554;G=5/A=4401;G=51/A=12955	lod=434:618	-	-	-	het	7
16	1	10032249	A	G	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.202A>G	p.R68G	non-syn	rs181504239	0.00186	G=46/A=8554;G=5/A=4401;G=51/A=12955	lod=434:618	-	-	-	het	7
17	1	10032291	G	A	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.244G>A	p.G82R	non-syn	rs79685493	0.00854	A=212/G=8388;A=22/G=4384;A=234/G=12772	-	-	-	-	het	15
18	1	10032552	C	+AA	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.505_506insAA	p.Q169NA	non-syn	rs34232396	-	-	-	-	-	-	het	4
19	1	10032552	C	+A	ENST00000492735	ENSG00000173614	10003486	10045559	-	NMNAT1	1	-	c.505_506insA	p.Q169NA	non-syn	rs34232396	-	-	-	-	-	-	het	5
20	1	10035689	G	T	ENST00000377205	ENSG00000173614	10003486	10045559	ENSP00000366410	NMNAT1	1	NMNA1_HUMAN	c.155G>T	p.G52V	non-syn	NA	-	-	lod=41:366	DAMAGING	P	-	het	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding NMNAT1 1:10003486..10045559 region Gbrowse