Variant Results

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Results for "NOL9"

Variant Events: 9

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
NOL9	7-0364-003	chr1: 6586113-6586113	G	A	intronic		De novo					-	-	Trost2022 G
NOL9	AU1795301	chr1: 6605281-6605281	A	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
NOL9	mAGRE1080	chr1: 6604909-6604909	G	C	exonic		Paternal	stopgain	NM_024654	c.C954G	p.Y318X	37.0	-	Cirnigliaro2023 G
NOL9	SP0187780	chr1: 6614506-6614506	C	T	exonic		De novo	synonymous SNV	NM_024654	c.G57A	p.R19R	-	-	Trost2022 G Trost2022 G
NOL9	MSSNG00054-004	chr1: 6591506-6591506	C	T	intronic		De novo					-	-	Trost2022 G
NOL9	24.s1	chr1: 6589211-6589211	T	C	exonic		De novo	synonymous SNV	NM_024654	c.A1668G	p.A556A	-	-	An2014 E
NOL9	5-0146-003	chr1: 6606269-6606269	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
NOL9	iHART1080	chr1: 6604909-6604909	G	C	exonic		Paternal	stopgain	NM_024654	c.C954G	p.Y318X	37.0	-	Ruzzo2019 G
NOL9	08C73987	chr1: 6614564-6614564	C	T	UTR5		De novo					-	-	Fu2022 E Satterstrom2020 E Trost2022 G

Source Variant Information

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Paper Information

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