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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 OFD1:

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
ENSG00000046651	OFD1	0	0	138	ENSG00000046651	ENST00000340096	ENSP00000344314	oral-facial-digital syndrome 1 [Source:HGNC Symbol;Acc:2567]	X	13752832	13787480	1	p22.2	13752864	13787472	OFD1	OFD1-001	HGNC Symbol	HGNC transcript name	9	39.8	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8481	2567	OFD1	NM_003611	27516

MSeqDR Master Exome Data Set M1: 220 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	X	13752895	G	T	ENST00000340096	ENSG00000046651	13752832	13787480	ENSP00000344314	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	het	127
2	X	13752895	G	T	ENST00000340096	ENSG00000046651	13752832	13787480	ENSP00000344314	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	hom	86
3	X	13752895	G	T	ENST00000380550	ENSG00000046651	13752832	13787480	ENSP00000369923	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	het	127
4	X	13752895	G	T	ENST00000380550	ENSG00000046651	13752832	13787480	ENSP00000369923	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	hom	86
5	X	13752895	G	T	ENST00000380567	ENSG00000046651	13752832	13787480	ENSP00000369941	OFD1	1	-	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	het	127
6	X	13752895	G	T	ENST00000380567	ENSG00000046651	13752832	13787480	ENSP00000369941	OFD1	1	-	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	hom	86
7	X	13752895	G	T	ENST00000398395	ENSG00000046651	13752832	13787480	ENSP00000381432	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	het	127
8	X	13752895	G	T	ENST00000398395	ENSG00000046651	13752832	13787480	ENSP00000381432	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	rs2285635	0.4881	-	-	-	-	-	hom	86
9	X	13752895	G	T	ENST00000485052	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.20G>T	p.C7F	non-syn	rs2285635	0.4881	-	-	-	-	-	het	127
10	X	13752895	G	T	ENST00000485052	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.20G>T	p.C7F	non-syn	rs2285635	0.4881	-	-	-	-	-	hom	86
11	X	13752895	G	T	ENST00000490265	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.16G>T	p.A6S	non-syn	rs2285635	0.4881	-	-	-	-	-	het	127
12	X	13752895	G	T	ENST00000490265	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.16G>T	p.A6S	non-syn	rs2285635	0.4881	-	-	-	-	-	hom	86
13	X	13752935	C	T	ENST00000340096	ENSG00000046651	13752832	13787480	ENSP00000344314	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	X	13752935	C	T	ENST00000380550	ENSG00000046651	13752832	13787480	ENSP00000369923	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	X	13752935	C	T	ENST00000380567	ENSG00000046651	13752832	13787480	ENSP00000369941	OFD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	X	13752935	C	T	ENST00000398395	ENSG00000046651	13752832	13787480	ENSP00000381432	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	X	13752935	C	T	ENST00000485052	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.60C>T	p.R20R	syn	NA	-	-	-	-	-	-	het	1
18	X	13752935	C	T	ENST00000490265	ENSG00000046651	13752832	13787480	-	OFD1	1	-	c.56C>T	p.A19V	non-syn	NA	-	-	-	-	-	-	het	1
19	X	13753091	C	G	ENST00000340096	ENSG00000046651	13752832	13787480	ENSP00000344314	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	X	13753091	C	G	ENST00000380550	ENSG00000046651	13752832	13787480	ENSP00000369923	OFD1	1	OFD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding OFD1 X:13752832..13787480 region Gbrowse