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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 LTBP2:

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
ENSG00000119681	LTBP2	0	0	21	ENSG00000119681	ENST00000261978	ENSP00000261978	latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:6715]	14	74964873	75079306	-1	q24.3	74964873	75079034	LTBP2	LTBP2-001	HGNC Symbol	HGNC transcript name	7	51.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4053	6715	LTBP2	NM_000428	27520

MSeqDR Master Exome Data Set M1: 349 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	14	74964903	T	C	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs74384554	0.008	-	lod=91:451	-	-	-	het	4
2	14	74965434	A	G	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs113879332	0.0401	-	-	-	-	-	het	1
3	14	74965630	T	C	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs73296215	0.0562	-	lod=17:272	-	-	-	het	4
4	14	74965714	G	C	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs77847288	0.04495	-	lod=25:313	-	-	-	het	14
5	14	74965714	G	C	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs77847288	0.04495	-	lod=25:313	-	-	-	hom	1
6	14	74965769	G	A	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs1052939	0.4703	-	-	-	-	-	hom	12
7	14	74965769	G	A	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs1052939	0.4703	-	-	-	-	-	het	81
8	14	74965956	G	A	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs183119073	0.0014	-	-	-	-	-	het	1
9	14	74966285	C	+GAA	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	14	74966763	G	A	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs7569	0.41544	-	-	-	-	-	het	110
11	14	74966763	G	A	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	rs7569	0.41544	-	-	-	-	-	hom	29
12	14	74967356	C	T	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=92:452	-	-	-	het	1
13	14	74967356	C	T	ENST00000553939	ENSG00000119681	74964873	75079306	ENSP00000452110	LTBP2	-1	-	-	-	3'_UTR	NA	-	-	lod=92:452	-	-	-	het	1
14	14	74967576	A	+C	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	14	74967576	A	+C	ENST00000553939	ENSG00000119681	74964873	75079306	ENSP00000452110	LTBP2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	14	74967576	A	+C	ENST00000554861	ENSG00000119681	74964873	75079306	-	LTBP2	-1	-	c.694_695insG	p.V232NA	non-syn	NA	-	-	-	-	-	-	het	1
17	14	74967576	A	+C	ENST00000556690	ENSG00000119681	74964873	75079306	ENSP00000451477	LTBP2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	14	74967651	C	T	ENST00000261978	ENSG00000119681	74964873	75079306	ENSP00000261978	LTBP2	-1	LTBP2_HUMAN	c.5402G>A	p.R1801H	non-syn	rs143010135	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=175:521	DAMAGING	D	-	het	1
19	14	74967651	C	T	ENST00000553939	ENSG00000119681	74964873	75079306	ENSP00000452110	LTBP2	-1	-	-	-	3'_UTR	rs143010135	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=175:521	DAMAGING	D	-	het	1
20	14	74967651	C	T	ENST00000554861	ENSG00000119681	74964873	75079306	-	LTBP2	-1	-	c.620G>A	p.R207H	non-syn	rs143010135	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=175:521	DAMAGING	D	-	het	1

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Transcripts and variants in the surrounding LTBP2 14:74964873..75079306 region Gbrowse