Variant Results

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Results for "NUP54"

Variant Events: 7

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
NUP54	AU2156303	chr4: 77070116-77070116	T	C	upstream		De novo					-	-	Yuen2017 G
NUP54	AU239A	chr4: 77057565-77057565	G	GTAGTTTGCTGCTGCTGCTGTGTATTAAATCCTCCAAATCCCAGT	exonic		De novo	frameshift insertion	NM_001278603 NM_017426	c.151_152insACTGGGATTTGGAGGATTTAATACACAGCAGCAGCAGCAAACTA c.295_296insACTGGGATTTGGAGGATTTAATACACAGCAGCAGCAGCAAACTA	p.A51fs p.T99fs	-	8.278E-6	Fu2022 E
NUP54	Uddin2014:31	chr4: 77038831-77038831	G	T	exonic		De novo	synonymous SNV	NM_001278603 NM_017426	c.C1237A c.C1381A	p.R413R p.R461R	-	-	Uddin2014 E
NUP54	SP0001583	chr4: 77038929-77038929	T	TTG	splicing		De novo	splicing				-	-	Fu2022 E
NUP54	SP0145834	chr4: 77069471-77069471	C	T	exonic		De novo	synonymous SNV	NM_001278603 NM_017426	c.G57A c.G57A	p.A19A p.A19A	-	-	Fu2022 E
NUP54	1-0025-006	chr4: 77064689-77064689	G	A	intronic		De novo					-	-	Yuen2017 G
NUP54	AU2495301	chr4: 77063836-77063836	T	C	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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