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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 LDB3:

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
ENSG00000122367	LDB3	1	8	189	ENSG00000122367	ENST00000372066	ENSP00000361136	LIM domain binding 3 [Source:HGNC Symbol;Acc:15710]	10	88428206	88495825	1	q23.2	88428370	88459798	LDB3	LDB3-002	HGNC Symbol	HGNC transcript name	10	53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	11155	15710	LDB3	NM_001080116	27525

MSeqDR Master Exome Data Set M1: 513 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	10	88428303	G	A	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	hom	19
2	10	88428303	G	A	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	het	165
3	10	88428303	G	A	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	hom	19
4	10	88428303	G	A	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	het	165
5	10	88428303	G	A	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	hom	19
6	10	88428303	G	A	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803556	0.1385	-	-	-	-	-	het	165
7	10	88428315	A	G	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	het	14
8	10	88428315	A	G	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	hom	1
9	10	88428315	A	G	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	het	14
10	10	88428315	A	G	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	hom	1
11	10	88428315	A	G	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	het	14
12	10	88428315	A	G	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs2803557	0.0144	-	-	-	-	-	hom	1
13	10	88428335	T	C	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	het	320
14	10	88428335	T	C	ENST00000352360	ENSG00000122367	88428206	88495825	ENSP00000263067	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	hom	376
15	10	88428335	T	C	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	het	320
16	10	88428335	T	C	ENST00000429277	ENSG00000122367	88428206	88495825	ENSP00000401437	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	hom	376
17	10	88428335	T	C	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	het	320
18	10	88428335	T	C	ENST00000458213	ENSG00000122367	88428206	88495825	ENSP00000409148	LDB3	1	LDB3_HUMAN	-	-	+8bp 5'_splice_site	rs2803558	0.6284	-	-	-	-	-	hom	376
19	10	88428394	C	A	ENST00000372066	ENSG00000122367	88428206	88495825	ENSP00000361136	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	rs34972863	-	A=12/C=3168;A=1/C=1383;A=13/C=4551	-	-	-	-	het	23
20	10	88428433	C	T	ENST00000263066	ENSG00000122367	88428206	88495825	ENSP00000263066	LDB3	1	LDB3_HUMAN	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	6

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Transcripts and variants in the surrounding LDB3 10:88428206..88495825 region Gbrowse