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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 NDUFA10:

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
ENSG00000130414	NDUFA10	1	165	21	ENSG00000130414	ENST00000419408	ENSP00000408055	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa [Source:HGNC Symbol;Acc:7684]	2	240831867	240964819	-1	q37.3	240831867	240951077	NDUFA10	NDUFA10-011	HGNC Symbol	HGNC transcript name	13	48.44	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	4705	7684	NDUFA10		27508

MSeqDR Master Exome Data Set M1: 251 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	2	240834669	G	A	ENST00000419408	ENSG00000130414	240831867	240964819	ENSP00000408055	NDUFA10	-1	-	c.357C>T	p.F119F	syn	rs62181292	0.05027	-	-	-	-	-	het	104
2	2	240834669	G	A	ENST00000419408	ENSG00000130414	240831867	240964819	ENSP00000408055	NDUFA10	-1	-	c.357C>T	p.F119F	syn	rs62181292	0.05027	-	-	-	-	-	hom	3
3	2	240834696	T	A	ENST00000419408	ENSG00000130414	240831867	240964819	ENSP00000408055	NDUFA10	-1	-	c.330A>T	p.L110L	syn	NA	-	-	-	-	-	-	het	3
4	2	240834708	T	C	ENST00000419408	ENSG00000130414	240831867	240964819	ENSP00000408055	NDUFA10	-1	-	c.318A>G	p.R106R	syn	NA	-	-	-	-	-	-	het	1
5	2	240897085	C	T	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs7573892	0.61287	-	-	-	-	-	het	324
6	2	240897085	C	T	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs7573892	0.61287	-	-	-	-	-	hom	201
7	2	240897126	C	T	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs146483651	0.0063	-	-	-	-	-	het	3
8	2	240897186	C	T	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs77216981	0.0602	-	-	-	-	-	het	51
9	2	240897188	G	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	14
10	2	240897188	G	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	2	240897323	T	-CA	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
12	2	240897331	G	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs34277046	0.34644	-	-	-	-	-	het	261
13	2	240897331	G	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs34277046	0.34644	-	-	-	-	-	hom	54
14	2	240897423	T	C	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	2	240897440	T	C	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	2	240897460	A	C	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs7588974	0.0489	-	-	-	-	-	het	32
17	2	240897460	A	C	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs7588974	0.0489	-	-	-	-	-	hom	2
18	2	240897632	C	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	240897876	T	G	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	2	240897933	G	A	ENST00000252711	ENSG00000130414	240831867	240964819	ENSP00000252711	NDUFA10	-1	NDUAA_HUMAN	-	-	3'_UTR	rs58261980	0.237	-	-	-	-	-	het	133

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Transcripts and variants in the surrounding NDUFA10 2:240831867..240964819 region Gbrowse