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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 LMBR1:

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
ENSG00000105983	LMBR1	0	0	18	ENSG00000105983	ENST00000430278		limb development membrane protein 1 [Source:HGNC Symbol;Acc:13243]	7	156461646	156685924	-1	q36.3	156555804	156685877	LMBR1	LMBR1-008	HGNC Symbol	HGNC transcript name	23	39.06	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	64327	13243	LMBR1		27506

MSeqDR Master Exome Data Set M1: 459 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	7	156473634	C	G	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	7	156473707	G	A	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	7	156473779	T	+AA	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	7	156473779	T	+A	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	16
5	7	156473779	T	+A	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	408
6	7	156473846	C	G	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs148658727	0.00187	-	-	DAMAGING	-	-	het	2
7	7	156473952	C	T	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	7	156474010	C	T	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	7	156474011	C	T	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs182572414	0.0103	-	-	-	-	-	het	2
10	7	156474142	C	T	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	7	156474163	G	A	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs114295738	0.0197	-	-	-	-	-	het	1
12	7	156474169	T	C	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs1014236	0.0901	-	-	-	-	-	het	59
13	7	156474169	T	C	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs1014236	0.0901	-	-	-	-	-	hom	4
14	7	156474171	G	A	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	7	156474176	T	C	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	7	156474253	A	T	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
17	7	156474253	A	T	ENST00000359422	ENSG00000105983	156461646	156685924	ENSP00000352392	LMBR1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	7	156474253	A	T	ENST00000448926	ENSG00000105983	156461646	156685924	ENSP00000403052	LMBR1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	7	156474574	G	C	ENST00000353442	ENSG00000105983	156461646	156685924	ENSP00000326604	LMBR1	-1	LMBR1_HUMAN	-	-	3'_UTR	rs116037533	0.0113	-	-	-	-	-	het	2
20	7	156474574	G	C	ENST00000359422	ENSG00000105983	156461646	156685924	ENSP00000352392	LMBR1	-1	-	-	-	3'_UTR	rs116037533	0.0113	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding LMBR1 7:156461646..156685924 region Gbrowse