Variant Results

or

or

Results for "ZAP70"

Variant Events: 10

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
ZAP70	MSSNG00077-005	chr2: 98337573-98337573	C	T	intronic		De novo					-	-	Trost2022 G
ZAP70	11990.p1	chr2: 98340801-98340801	C	T	exonic			nonsynonymous SNV	NM_001079	c.C302T	p.P101L	19.96	-	Zhou2022 GE
ZAP70	2-1504-003	chr2: 98339882-98339882	T	TAGCG	intronic		De novo					-	-	Trost2022 G
ZAP70	09C82222	chr2: 98354242-98354242	C	T	exonic		De novo	nonsynonymous SNV	NM_207519 NM_001079	c.C584T c.C1505T	p.P195L p.P502L	31.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ZAP70	SSC06079	chr2: 98354112-98354112	A	G	exonic			nonsynonymous SNV	NM_207519 NM_001079	c.A545G c.A1466G	p.D182G p.D489G	11.69	1.65E-5	Antaki2022 GE
ZAP70	NDAR_INVNT563VL9_wes1	chr2: 98354410-98354410	G	A	intronic		De novo					-	-	Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
ZAP70	SP0032142	chr2: 98340848-98340859	TGCCTGCGAGAC	T	exonic			frameshift deletion	NM_001079	c.350_360del	p.C117fs	-	-	Antaki2022 GE Zhou2022 GE
ZAP70	SP0052454	chr2: 98354068-98354068	C	T	exonic		De novo	synonymous SNV	NM_207519 NM_001079	c.C501T c.C1422T	p.Y167Y p.Y474Y	-	3.3E-5	Fu2022 E Trost2022 G Zhou2022 GE
ZAP70	3-0508-000	chr2: 98356234-98356234	G	A	UTR3		De novo					-	-	Trost2022 G
ZAP70	AU3605304	chr2: 98349703-98349703	G	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
	More