Variant Results

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Results for "CNKSR2"

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
CNKSR2	SanDiego_S7J3D	chrX: 21444725-21444725	C	T	exonic		Unknown	nonsynonymous SNV	NM_001168647 NM_001168648 NM_001168649 NM_014927	c.C175T c.C175T c.C175T c.C175T	p.R59C p.R59C p.R59C p.R59C	21.6	-	Wang2020 T
CNKSR2	Leuven_420862	chrX: 21450755-21450756	TA	T	exonic		Unknown	frameshift deletion	NM_001168647 NM_001168648 NM_001168649 NM_014927	c.255delA c.255delA c.255delA c.255delA	p.L85fs p.L85fs p.L85fs p.L85fs	-	-	Wang2020 T
CNKSR2	AU2437302	chrX: 21547337-21547337	T	G	intronic		De novo					-	-	Yuen2017 G
CNKSR2	12493.p1	chrX: 21467450-21467450	G	A	intronic		De novo					-	-	Turner2016 G
CNKSR2	2-1325-003	chrX: 21584443-21584443	A	G	intronic		De novo					-	-	Yuen2017 G
CNKSR2	2-0320-003	chrX: 21609056-21609056	A	C	intronic		De novo					-	-	Yuen2017 G
CNKSR2	Mahjani2021:124	chrX: 21550164-21550164	C	T	exonic			stopgain	NM_001168649 NM_001168647 NM_001168648 NM_014927	c.C1135T c.C1282T c.C1282T c.C1282T	p.R379X p.R428X p.R428X p.R428X	37.0	-	Mahjani2021 E
CNKSR2	13661.p1	chrX: 21619398-21619398	A	C	splicing		De novo	splicing				17.92	-	Wilfert2021 G
CNKSR2	74-0355	chrX: 21551140-21551140	T	C	intronic		De novo					-	-	Michaelson2012 G
CNKSR2	7-0249-003	chrX: 21654917-21654931	GTATATATATATATA	GTATATATATATATATA	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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