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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 RAB23:

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
ENSG00000112210	RAB23	0	0	2	ENSG00000112210	ENST00000468148	ENSP00000417610	RAB23, member RAS oncogene family [Source:HGNC Symbol;Acc:14263]	6	57053607	57087078	-1	p11.2	57054597	57086205	RAB23	RAB23-001	HGNC Symbol	HGNC transcript name	2	37.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51715	14263	RAB23	NM_183227	27515

MSeqDR Master Exome Data Set M1: 35 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	57053843	T	C	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	6	57053947	T	C	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs11398	0.13364	-	-	-	-	-	het	43
3	6	57053947	T	C	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs11398	0.13364	-	-	-	-	-	hom	5
4	6	57054008	C	T	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs182662	0.02385	-	-	-	-	-	het	10
5	6	57054271	T	G	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs77353467	0.00364	-	-	-	-	-	het	2
6	6	57054557	T	C	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs147029150	0.0028	-	-	-	-	-	het	1
7	6	57054582	A	G	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
8	6	57054843	C	G	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs1411578	0.12637	-	-	-	-	-	het	158
9	6	57054843	C	G	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs1411578	0.12637	-	-	-	-	-	hom	17
10	6	57054843	C	G	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs1411578	0.12637	-	-	-	-	-	het	158
11	6	57054843	C	G	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	rs1411578	0.12637	-	-	-	-	-	hom	17
12	6	57055005	T	C	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	6	57055005	T	C	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	6	57055274	G	A	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	c.699C>T	p.S233S	syn	NA	-	-	lod=694:668	-	-	-	het	1
15	6	57055274	G	A	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	c.699C>T	p.S233S	syn	NA	-	-	lod=694:668	-	-	-	het	1
16	6	57055354	C	T	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	c.619G>A	p.G207S	non-syn	rs1040461	0.0971	T=690/C=7910;T=806/C=3600;T=1496/C=11510	lod=694:668	TOLERATED	B	-	het	127
17	6	57055354	C	T	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	c.619G>A	p.G207S	non-syn	rs1040461	0.0971	T=690/C=7910;T=806/C=3600;T=1496/C=11510	lod=694:668	TOLERATED	B	-	hom	5
18	6	57055354	C	T	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	c.619G>A	p.G207S	non-syn	rs1040461	0.0971	T=690/C=7910;T=806/C=3600;T=1496/C=11510	lod=694:668	TOLERATED	B	-	het	127
19	6	57055354	C	T	ENST00000468148	ENSG00000112210	57053607	57087078	ENSP00000417610	RAB23	-1	RAB23_HUMAN	c.619G>A	p.G207S	non-syn	rs1040461	0.0971	T=690/C=7910;T=806/C=3600;T=1496/C=11510	lod=694:668	TOLERATED	B	-	hom	5
20	6	57059615	A	T	ENST00000317483	ENSG00000112210	57053607	57087078	ENSP00000320413	RAB23	-1	RAB23_HUMAN	c.434T>A	p.L145*	non-syn	rs121908171	-	T=2/A=8588;T=2/A=4402;T=4/A=12990	lod=157:510	-	NA	HGMD	het	4

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding RAB23 6:57053607..57087078 region Gbrowse