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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 ZAP70:

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
ENSG00000115085	ZAP70	0	0	14	ENSG00000115085	ENST00000264972	ENSP00000264972	zeta-chain (TCR) associated protein kinase 70kDa [Source:HGNC Symbol;Acc:12858]	2	98330023	98356325	1	q11.2	98330023	98356323	ZAP70	ZAP70-001	HGNC Symbol	HGNC transcript name	9	55.1	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7535	12858	ZAP70	NM_001079	27508

MSeqDR Master Exome Data Set M1: 179 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	98340463	C	T	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
2	2	98340463	C	T	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
3	2	98340545	T	C	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	c.46T>C	p.S16P	non-syn	NA	-	-	lod=1032:711	DAMAGING	D	-	het	3
4	2	98340545	T	C	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.239T>C	p.L80P	non-syn	NA	-	-	lod=1032:711	DAMAGING	D	-	het	3
5	2	98340604	G	A	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	c.105G>A	p.L35L	syn	rs56127120	0.0324	A=5/G=8533;A=4/G=4364;A=9/G=12897	lod=1032:711	-	-	-	het	2
6	2	98340604	G	A	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.298G>A	p.A100T	non-syn	rs56127120	0.0324	A=5/G=8533;A=4/G=4364;A=9/G=12897	lod=1032:711	-	-	-	het	2
7	2	98340715	C	T	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	c.216C>T	p.A72A	syn	rs199499629	-	-	lod=27:321	-	-	-	het	1
8	2	98340715	C	T	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.409C>T	p.R137W	non-syn	rs199499629	-	-	lod=27:321	-	-	-	het	1
9	2	98340773	G	A	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	c.274G>A	p.D92N	non-syn	NA	-	-	lod=144:500	DAMAGING	P	-	het	1
10	2	98340773	G	A	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.467G>A	p.R156Q	non-syn	NA	-	-	lod=144:500	DAMAGING	P	-	het	1
11	2	98340931	G	A	ENST00000463643	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.8G>A	p.W3*	non-syn	rs201910784	-	A=0/G=6956;A=3/G=3507;A=3/G=10463	-	-	-	-	het	2
12	2	98341120	A	G	ENST00000463643	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.197A>G	p.Y66C	non-syn	rs13006704	0.0072	-	-	-	-	-	het	9
13	2	98341120	A	G	ENST00000463643	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.197A>G	p.Y66C	non-syn	rs13006704	0.0072	-	-	-	-	-	hom	1
14	2	98341314	T	C	ENST00000463643	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
15	2	98341616	C	T	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	c.464C>T	p.T155M	non-syn	rs145955907	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=140:497	DAMAGING	D	-	het	2
16	2	98341616	C	T	ENST00000442208	ENSG00000115085	98330023	98356325	ENSP00000411141	ZAP70	1	ZAP70_HUMAN	c.86C>T	p.T29M	non-syn	rs145955907	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=140:497	DAMAGING	D	-	het	2
17	2	98341616	C	T	ENST00000463643	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.325C>T	p.R109*	non-syn	rs145955907	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=140:497	DAMAGING	D	-	het	2
18	2	98341616	C	T	ENST00000483781	ENSG00000115085	98330023	98356325	-	ZAP70	1	-	c.657C>T	p.Y219Y	syn	rs145955907	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=140:497	DAMAGING	D	-	het	2
19	2	98341728	C	G	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	-	-	+13bp 5'_splice_site	rs2289918	0.2846	G=905/C=7695;G=1495/C=2911;G=2400/C=10606	-	-	-	-	het	151
20	2	98341728	C	G	ENST00000264972	ENSG00000115085	98330023	98356325	ENSP00000264972	ZAP70	1	ZAP70_HUMAN	-	-	+13bp 5'_splice_site	rs2289918	0.2846	G=905/C=7695;G=1495/C=2911;G=2400/C=10606	-	-	-	-	hom	18

** 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 ZAP70 2:98330023..98356325 region Gbrowse