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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 NDUFAF4:

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
ENSG00000123545	NDUFAF4	1	68	9	ENSG00000123545	ENST00000316149	ENSP00000358272	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 [Source:HGNC Symbol;Acc:21034]	6	97337189	97345757	-1	q16.1	97337189	97345757	NDUFAF4	NDUFAF4-001	HGNC Symbol	HGNC transcript name	3	38.11	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	29078	21034	NDUFAF4	NM_014165	27515

MSeqDR Master Exome Data Set M1: 74 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	6	97337338	A	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs150444958	0.00092	-	-	-	-	-	het	6
2	6	97337533	A	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs116939090	0.03091	-	-	-	-	-	het	23
3	6	97337533	A	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs116939090	0.03091	-	-	-	-	-	hom	2
4	6	97337537	C	T	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs7758762	0.3618	-	-	-	-	-	het	232
5	6	97337537	C	T	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs7758762	0.3618	-	-	-	-	-	hom	44
6	6	97337545	C	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	6	97337605	C	A	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs138003168	0.00455	-	-	-	-	-	hom	1
8	6	97337605	C	A	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs138003168	0.00455	-	-	-	-	-	het	13
9	6	97337612	T	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	6	97337617	C	T	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs184678986	0.00548	-	-	-	-	-	het	5
11	6	97337726	T	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs79104264	0.0128	-	lod=14:251	-	-	-	het	1
12	6	97337766	C	T	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs17057099	0.0315	-	-	-	-	-	het	2
13	6	97337918	A	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs76370016	0.04	-	-	-	-	-	het	3
14	6	97337989	C	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	6	97337996	C	T	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	6	97338000	T	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	6	97338331	T	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	6	97338341	T	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs11759571	0.04528	-	-	-	-	-	het	60
19	6	97338341	T	G	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	rs11759571	0.04528	-	-	-	-	-	hom	7
20	6	97338449	T	C	ENST00000316149	ENSG00000123545	97337189	97345757	ENSP00000358272	NDUFAF4	-1	NDUF4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4

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Transcripts and variants in the surrounding NDUFAF4 6:97337189..97345757 region Gbrowse