Variant Results

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Results for "NOP2"

Variant Events: 8

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
NOP2	18D129	chr12: 6676109-6676109	A	C	intronic		De novo					-	-	Fu2022 E
NOP2	TRE_2453	chr12: 6666775-6666775	T	C	exonic		De novo	nonsynonymous SNV	NM_001033714 NM_001258308 NM_006170 NM_001258309	c.A1811G c.A1823G c.A1811G c.A1922G	p.D604G p.D608G p.D604G p.D641G	2.175	-	Fu2022 E
NOP2	Li2017:15051	chr12: 6670111-6670111	G	A	exonic		Unknown	nonsynonymous SNV	NM_001033714 NM_001258308 NM_001258310 NM_006170 NM_001258309	c.C1321T c.C1333T c.C1321T c.C1321T c.C1432T	p.R441C p.R445C p.R441C p.R441C p.R478C	22.5	1.682E-5	Li2017 T
NOP2	AU061003	chr12: 6676107-6676107	T	G	intronic		De novo					-	-	Yuen2017 G
NOP2	A23	chr12: 6666244-6666244	A	AA	exonic		De novo	frameshift insertion	NM_001033714 NM_001258308 NM_006170 NM_001258309	c.2342dupT c.2354dupT c.2342dupT c.2453dupT	p.V781fs p.V785fs p.V781fs p.V818fs	-	-	Wu2018 G
NOP2	A15	chr12: 6666244-6666244	A	AA	exonic		De novo	frameshift insertion	NM_001033714 NM_001258308 NM_006170 NM_001258309	c.2342dupT c.2354dupT c.2342dupT c.2453dupT	p.V781fs p.V785fs p.V781fs p.V818fs	-	-	Wu2018 G
NOP2	PN400308	chr12: 6672599-6672599	C	T	exonic		Unknown	nonsynonymous SNV	NM_001033714 NM_001258308 NM_001258310 NM_006170 NM_001258309	c.G758A c.G770A c.G758A c.G758A c.G869A	p.R253Q p.R257Q p.R253Q p.R253Q p.R290Q	37.0	0.0014	Leblond2019 E
NOP2	SP0032493	chr12: 6672266-6672266	C	T	exonic		De novo	nonsynonymous SNV	NM_001033714 NM_001258308 NM_001258310 NM_006170 NM_001258309	c.G947A c.G959A c.G947A c.G947A c.G1058A	p.R316Q p.R320Q p.R316Q p.R316Q p.R353Q	32.0	8.104E-5	Fu2022 E

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Paper Information

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