Variant Results

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Results for "NUP98"

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
NUP98	AU2123302	chr11: 3702021-3702021	A	G	intronic		De novo					-	-	Yuen2017 G
NUP98	09C85773A	chr11: 3721958-3721958	G	A	exonic		De novo	synonymous SNV	NM_016320 NM_139132	c.C3624T c.C3624T	p.H1208H p.H1208H	8.86	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Neale2012 E
NUP98	11722.p1	chr11: 3707194-3707194	C	T	intronic		De novo					-	1.0E-4	Satterstrom2020 E
NUP98	C209603	chr11: 3797213-3797213	T	G	exonic		De novo	nonsynonymous SNV	NM_005387 NM_016320 NM_139131 NM_139132	c.A394C c.A394C c.A394C c.A394C	p.T132P p.T132P p.T132P p.T132P	20.7	-	Fu2022 E
NUP98	1-0452-003	chr11: 3766238-3766238	C	T	intronic		De novo					-	-	Yuen2017 G
NUP98	AU4412302	chr11: 3738307-3738307	C	T	intronic		De novo					-	-	Yuen2017 G
NUP98	GM182000	chr11: 3704666-3704666	C	T	exonic		De novo	nonsynonymous SNV	NM_139132 NM_016320	c.G4460A c.G4682A	p.R1487H p.R1561H	26.1	-	Fu2022 E
NUP98	SP0008440	chr11: 3720449-3720449	C	T	exonic		De novo	nonsynonymous SNV	NM_016320 NM_139132	c.G3872A c.G3872A	p.R1291H p.R1291H	11.18	-	Feliciano2019 E
NUP98	AU063005	chr11: 3721776-3721776	G	A	intronic		De novo					-	-	Yuen2017 G
NUP98	SP0068589	chr11: 3697490-3697490	G	A	exonic		De novo	nonsynonymous SNV	NM_139132 NM_016320	c.C5080T c.C5302T	p.P1694S p.P1768S	14.09	-	Fu2022 E

Source Variant Information

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Paper Information

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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.
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