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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 GHR:

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
ENSG00000112964	GHR	0	0	26	ENSG00000112964	ENST00000230882	ENSP00000230882	growth hormone receptor [Source:HGNC Symbol;Acc:4263]	5	42423879	42721979	1	p13.1	42423879	42721979	GHR	GHR-001	HGNC Symbol	HGNC transcript name	7	38.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2690	4263	GHR	NM_001242406	27527

MSeqDR Master Exome Data Set M1: 192 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	5	42423905	A	G	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	rs2940928	0.8099	-	lod=148:503	-	-	-	het	132
2	5	42423905	A	G	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	rs2940928	0.8099	-	lod=148:503	-	-	-	hom	318
3	5	42423919	C	A	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	5	42423919	C	+G	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	5	42424054	G	A	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	5	42424054	G	A	ENST00000357703	ENSG00000112964	42423879	42721979	ENSP00000350335	GHR	1	GHR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	5	42565967	T	C	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	-	-	5'_UTR	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
8	5	42565967	T	C	ENST00000357703	ENSG00000112964	42423879	42721979	ENSP00000350335	GHR	1	GHR_HUMAN	-	-	5'_UTR	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
9	5	42565967	T	C	ENST00000505006	ENSG00000112964	42423879	42721979	-	GHR	1	-	c.366T>C	p.G122G	syn	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
10	5	42565967	T	C	ENST00000511135	ENSG00000112964	42423879	42721979	ENSP00000422333	GHR	1	-	-	-	5'_UTR	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
11	5	42565967	T	C	ENST00000513671	ENSG00000112964	42423879	42721979	ENSP00000426739	GHR	1	-	-	-	5'_UTR	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
12	5	42565967	T	C	ENST00000537449	ENSG00000112964	42423879	42721979	ENSP00000442206	GHR	1	-	-	-	5'_UTR	rs201804261	-	C=7/T=8593;C=0/T=4406;C=7/T=12999	lod=214:543	-	-	-	het	3
13	5	42629147	A	G	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	c.78A>G	p.A26A	syn	NA	-	-	lod=24:309	-	-	-	het	1
14	5	42629147	A	G	ENST00000511135	ENSG00000112964	42423879	42721979	ENSP00000422333	GHR	1	-	c.78A>G	p.A26A	syn	NA	-	-	lod=24:309	-	-	-	het	1
15	5	42629147	A	G	ENST00000513671	ENSG00000112964	42423879	42721979	ENSP00000426739	GHR	1	-	c.78A>G	p.A26A	syn	NA	-	-	lod=24:309	-	-	-	het	1
16	5	42629147	A	G	ENST00000537449	ENSG00000112964	42423879	42721979	ENSP00000442206	GHR	1	-	-	-	5'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
17	5	42646448	T	A	ENST00000513671	ENSG00000112964	42423879	42721979	ENSP00000426739	GHR	1	-	c.151T>A	p.S51T	non-syn	rs79362852	0.07699	-	-	-	-	-	het	103
18	5	42646448	T	A	ENST00000513671	ENSG00000112964	42423879	42721979	ENSP00000426739	GHR	1	-	c.151T>A	p.S51T	non-syn	rs79362852	0.07699	-	-	-	-	-	hom	6
19	5	42647899	G	A	ENST00000513671	ENSG00000112964	42423879	42721979	ENSP00000426739	GHR	1	-	-	-	+1bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
20	5	42695161	G	C	ENST00000230882	ENSG00000112964	42423879	42721979	ENSP00000230882	GHR	1	GHR_HUMAN	c.409G>C	p.D137H	non-syn	NA	-	C=1/G=8599;C=0/G=4406;C=1/G=13005	lod=23:304	DAMAGING	D	-	het	1

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GHR 5:42423879..42721979 region Gbrowse