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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 HTT:

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
ENSG00000197386	HTT	1	0	5	ENSG00000197386	ENST00000355072	ENSP00000347184	huntingtin [Source:HGNC Symbol;Acc:4851]	4	3076408	3245676	1	p16.3	3076408	3245676	HTT	HTT-001	HGNC Symbol	HGNC transcript name	13	45.52	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3064	4851	HTT	NM_002111	27524

MSeqDR Master Exome Data Set M1: 455 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	4	3076450	C	T	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	rs146151652	0.0298	-	-	-	-	-	het	34
2	4	3076450	C	T	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	rs146151652	0.0298	-	-	-	-	-	hom	1
3	4	3076469	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	rs201071630	-	-	-	-	-	-	het	1
4	4	3076532	C	T	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	4	3076541	C	G	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	4	3076551	C	T	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	-	-	5'_UTR	NA	-	-	lod=278:571	-	-	-	het	1
7	4	3076603	C	-CAGCAGCAG	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.52_60del	p.Q18NA	non-syn	NA	-	-	lod=278:571	-	-	-	het	1
8	4	3076603	C	-CAGCAG	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.52_57del	p.Q18NA	non-syn	NA	-	-	lod=278:571	-	-	-	het	2
9	4	3076604	C	-AGCAG	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.53_57del	p.Q18NA	non-syn	NA	-	-	lod=278:571	-	-	-	hom	1
10	4	3076633	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.81G>A	p.Q27Q	syn	NA	-	-	lod=278:571	-	-	-	het	1
11	4	3076638	A	-GCAGC	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.87_91del	p.Q29NA	non-syn	NA	-	-	lod=278:571	-	-	-	hom	1
12	4	3076642	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.90G>A	p.Q30Q	syn	NA	-	-	lod=278:571	-	-	-	het	1
13	4	3076651	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.99G>A	p.Q33Q	syn	NA	-	-	-	-	-	-	het	4
14	4	3076654	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.102G>A	p.Q34Q	syn	NA	-	-	-	-	-	-	het	21
15	4	3076657	G	A	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.105G>A	p.Q35Q	syn	rs9993357	-	-	-	-	-	-	het	11
16	4	3076657	G	C	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.105G>C	p.Q35H	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
17	4	3076659	A	C	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.107A>C	p.Q36P	non-syn	NA	-	-	-	TOLERATED	NA	-	het	21
18	4	3076665	A	C	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.113A>C	p.Q38P	non-syn	rs61792466	-	-	-	TOLERATED	NA	-	het	6
19	4	3076665	A	+GCCGCCCCC	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.113_114insGCCGCCCCC	p.Q38NA	non-syn	NA	-	-	-	-	-	-	hom	1
20	4	3076672	A	+CCGCCGCCG	ENST00000355072	ENSG00000197386	3076408	3245676	ENSP00000347184	HTT	1	HD_HUMAN	c.120_121insCCGCCGCCG	p.P41NA	non-syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding HTT 4:3076408..3245676 region Gbrowse