Variant Results

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Results for "CMPK2"

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
CMPK2	SSC07370	chr2: 6990025-6990025	G	A	exonic		De novo	stopgain	NM_207315	c.C1306T	p.Q436X	14.8	-	Fu2022 E Lim2017 E Trost2022 G
CMPK2	3-0430-000	chr2: 6983679-6983679	G	C	intronic		De novo					-	-	Trost2022 G Yuen2016 G
CMPK2	13254.p1	chr2: 6990025-6990025	G	A	exonic		Mosaic, De novo	stopgain	NM_207315	c.C1306T	p.Q436X	14.8	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
CMPK2	Viggiano2022:105.3	chr2: 7005254-7005254	C	T	exonic		Maternal	nonsynonymous SNV	NM_001256477 NM_001256478 NM_207315	c.G574A c.G574A c.G574A	p.V192I p.V192I p.V192I	12.53	-	Viggiano2022 GT
CMPK2	1-0041-003	chr2: 6992133-6992133	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CMPK2	mAGRE3041	chr2: 7005363-7005364	CT	C	exonic		De novo	frameshift deletion	NM_001256477 NM_001256478 NM_207315	c.464delA c.464delA c.464delA	p.E155fs p.E155fs p.E155fs	-	-	Cirnigliaro2023 G
CMPK2	iHART3041	chr2: 7005363-7005364	CT	C	exonic		De novo	frameshift deletion	NM_001256477 NM_001256478 NM_207315	c.464delA c.464delA c.464delA	p.E155fs p.E155fs p.E155fs	-	-	Ruzzo2019 G
CMPK2	SJD_79.3	chr2: 6993895-6993895	T	C	intronic		De novo					-	-	Trost2022 G
CMPK2	SP0193244	chr2: 7005742-7005742	G	A	exonic		De novo	nonsynonymous SNV	NM_001256477 NM_001256478 NM_207315	c.C86T c.C86T c.C86T	p.P29L p.P29L p.P29L	9.039	-	Trost2022 G
CMPK2	SP0047295	chr2: 7005363-7005364	CT	C	exonic		De novo	frameshift deletion	NM_001256477 NM_001256478 NM_207315	c.464delA c.464delA c.464delA	p.E155fs p.E155fs p.E155fs	-	-	Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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