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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 IHH:

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
ENSG00000163501	IHH	0	0	10	ENSG00000163501	ENST00000295731	ENSP00000295731	indian hedgehog [Source:HGNC Symbol;Acc:5956]	2	219919142	219925189	-1	q35	219919142	219925189	IHH	IHH-001	HGNC Symbol	HGNC transcript name	1	63.16	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3549	5956	IHH	NM_002181	27508

MSeqDR Master Exome Data Set M1: 30 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	2	219919305	C	-G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	2	219919629	A	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	2	219919730	C	T	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	2	219919754	G	C	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	rs3099	0.6355	-	-	-	-	-	hom	249
5	2	219919754	G	C	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	rs3099	0.6355	-	-	-	-	-	het	320
6	2	219919846	T	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
7	2	219919904	C	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	-	-	3'_UTR	rs76709099	0.0426	-	-	-	-	-	het	3
8	2	219919971	C	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.1194G>C	p.E398D	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
9	2	219920037	A	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.1128T>C	p.T376T	syn	rs394452	0.803	G=6852/A=1748;G=4222/A=184;G=11074/A=1932	-	-	-	-	het	256
10	2	219920037	A	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.1128T>C	p.T376T	syn	rs394452	0.803	G=6852/A=1748;G=4222/A=184;G=11074/A=1932	-	-	-	-	hom	570
11	2	219920196	G	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.969C>T	p.H323H	syn	rs76578869	0.0541	A=4/G=8594;A=256/G=4148;A=260/G=12742	-	-	-	-	het	4
12	2	219920240	C	T	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.925G>A	p.V309M	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
13	2	219920274	G	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.891C>T	p.H297H	syn	NA	-	-	lod=194:532	-	-	-	het	1
14	2	219920292	C	T	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.873G>A	p.R291R	syn	rs149554120	0.007	T=23/C=8575;T=1/C=4401;T=24/C=12976	lod=26:317	-	-	-	het	1
15	2	219920307	C	T	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.858G>A	p.P286P	syn	rs146055831	0.0065	T=1/C=8599;T=19/C=4387;T=20/C=12986	-	-	-	-	het	1
16	2	219920308	G	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.857C>T	p.P286L	non-syn	rs140093604	0.0041	A=8/G=8592;A=1/G=4405;A=9/G=12997	-	TOLERATED	D	-	het	1
17	2	219920346	G	A	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.819C>T	p.P273P	syn	rs61747697	0.0247	A=2/G=8598;A=114/G=4292;A=116/G=12890	lod=16:265	-	-	-	het	7
18	2	219920410	T	C	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.755A>G	p.H252R	non-syn	rs76479554	0.0636	C=4/T=8596;C=255/T=4151;C=259/T=12747	-	TOLERATED	B	-	het	5
19	2	219920412	A	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.753T>C	p.P251P	syn	rs3731881	0.6103	G=5732/A=2868;G=1999/A=2407;G=7731/A=5275	lod=26:317	-	-	-	hom	414
20	2	219920412	A	G	ENST00000295731	ENSG00000163501	219919142	219925189	ENSP00000295731	IHH	-1	IHH_HUMAN	c.753T>C	p.P251P	syn	rs3731881	0.6103	G=5732/A=2868;G=1999/A=2407;G=7731/A=5275	lod=26:317	-	-	-	het	452

** 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 IHH 2:219919142..219925189 region Gbrowse