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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 PTHLH:

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
ENSG00000087494	PTHLH	0	0	4	ENSG00000087494	ENST00000539239	ENSP00000441571	parathyroid hormone-like hormone [Source:HGNC Symbol;Acc:9607]	12	28111017	28125638	-1	p11.22	28111203	28122494	PTHLH	PTHLH-008	HGNC Symbol	HGNC transcript name	10	40.26	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5744	9607	PTHLH		27519

MSeqDR Master Exome Data Set M1: 91 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	12	28111073	T	C	ENST00000395872	ENSG00000087494	28111017	28125638	ENSP00000379213	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs6252	0.1178	-	lod=2015:782	-	-	-	het	19
2	12	28111319	C	+AA	ENST00000395872	ENSG00000087494	28111017	28125638	ENSP00000379213	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	NA	-	-	lod=2015:782	-	-	-	het	9
3	12	28111319	C	+AA	ENST00000539239	ENSG00000087494	28111017	28125638	ENSP00000441571	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	NA	-	-	lod=2015:782	-	-	-	het	9
4	12	28111319	C	+A	ENST00000395872	ENSG00000087494	28111017	28125638	ENSP00000379213	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs34525777	-	-	lod=2015:782	-	-	-	het	484
5	12	28111319	C	+A	ENST00000395872	ENSG00000087494	28111017	28125638	ENSP00000379213	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs34525777	-	-	lod=2015:782	-	-	-	hom	224
6	12	28111319	C	+A	ENST00000539239	ENSG00000087494	28111017	28125638	ENSP00000441571	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs34525777	-	-	lod=2015:782	-	-	-	het	484
7	12	28111319	C	+A	ENST00000539239	ENSG00000087494	28111017	28125638	ENSP00000441571	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs34525777	-	-	lod=2015:782	-	-	-	hom	224
8	12	28111415	A	C	ENST00000395872	ENSG00000087494	28111017	28125638	ENSP00000379213	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs189814310	-	-	lod=2015:782	-	-	-	het	5
9	12	28111415	A	C	ENST00000539239	ENSG00000087494	28111017	28125638	ENSP00000441571	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs189814310	-	-	lod=2015:782	-	-	-	het	5
10	12	28111415	A	C	ENST00000545234	ENSG00000087494	28111017	28125638	ENSP00000441765	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs189814310	-	-	lod=2015:782	-	-	-	het	5
11	12	28114643	T	A	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs967	0.1187	-	-	-	-	-	het	40
12	12	28114643	T	A	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs967	0.1187	-	-	-	-	-	hom	3
13	12	28114712	C	-TATT	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	12	28114816	A	G	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs6248	0.1173	-	-	-	-	-	het	43
15	12	28114816	A	G	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	-	-	3'_UTR	rs6248	0.1173	-	-	-	-	-	hom	4
16	12	28114880	G	-TTC	ENST00000354417	ENSG00000087494	28111017	28125638	ENSP00000346398	PTHLH	-1	PTHR_HUMAN	c.572_574del	p.T192NA	non-syn	NA	-	-	-	-	-	-	het	1
17	12	28114880	G	-TTC	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	c.572_574del	p.T192NA	non-syn	NA	-	-	-	-	-	-	het	1
18	12	28114891	G	-T	ENST00000354417	ENSG00000087494	28111017	28125638	ENSP00000346398	PTHLH	-1	PTHR_HUMAN	c.563_563del	p.N188NA	non-syn	NA	-	-	lod=36:352	-	-	-	het	1
19	12	28114891	G	-T	ENST00000538310	ENSG00000087494	28111017	28125638	ENSP00000441890	PTHLH	-1	PTHR_HUMAN	c.563_563del	p.N188NA	non-syn	NA	-	-	lod=36:352	-	-	-	het	1
20	12	28114927	T	G	ENST00000354417	ENSG00000087494	28111017	28125638	ENSP00000346398	PTHLH	-1	PTHR_HUMAN	c.528A>C	p.T176T	syn	NA	-	-	lod=36:352	-	-	-	het	1

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Transcripts and variants in the surrounding PTHLH 12:28111017..28125638 region Gbrowse