Variant Results

or

or

Results for "SYNRG"

Variant Events: 6

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
SYNRG	AU4060306	chr17: 35885004-35885004	G	C	intronic		De novo					-	-	Yuen2017 G
SYNRG	Lim2017:5426	chr17: 35946557-35946557	T	G	exonic		De novo	nonsynonymous SNV	NM_001163544 NM_001163545 NM_001163546 NM_001163547 NM_007247 NM_080550 NM_198882	c.A341C c.A338C c.A341C c.A341C c.A341C c.A341C c.A341C	p.D114A p.D113A p.D114A p.D114A p.D114A p.D114A p.D114A	23.8	-	Lim2017 E
SYNRG	1-0699-003	chr17: 35884993-35884993	G	C	intronic		De novo					-	-	Yuen2017 G
SYNRG	AU1952305	chr17: 35878826-35878826	G	A	UTR3		De novo					-	-	Yuen2017 G
SYNRG	1-0455-003	chr17: 35945489-35945489	G	A	exonic		De novo	nonsynonymous SNV	NM_001163544 NM_001163545 NM_001163546 NM_001163547 NM_007247 NM_080550 NM_198882	c.C421T c.C418T c.C421T c.C421T c.C421T c.C421T c.C421T	p.R141C p.R140C p.R141C p.R141C p.R141C p.R141C p.R141C	21.9	1.651E-5	Yuen2017 G
SYNRG	11599.p1	chr17: 35946557-35946557	T	G	exonic		De novo	nonsynonymous SNV	NM_001163544 NM_001163545 NM_001163546 NM_001163547 NM_007247 NM_080550 NM_198882	c.A341C c.A338C c.A341C c.A341C c.A341C c.A341C c.A341C	p.D114A p.D113A p.D114A p.D114A p.D114A p.D114A p.D114A	23.8	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 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