Variant Results

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Results for "KIRREL2"

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
KIRREL2	iHART3011	chr19: 36351199-36351199	A	AC	exonic		Maternal	frameshift insertion	NM_199179 NM_032123 NM_199180	c.525dupC c.675dupC c.675dupC	p.Y175fs p.Y225fs p.Y225fs	-	2.0E-4	Ruzzo2019 G
KIRREL2	mAGRE6078	chr19: 36351475-36351476	CG	C	exonic		Maternal	frameshift deletion	NM_199179 NM_032123 NM_199180	c.685delG c.835delG c.835delG	p.V229fs p.V279fs p.V279fs	-	8.27E-6	Cirnigliaro2023 G
KIRREL2	4-0062-003	chr19: 36349369-36349369	A	C	exonic		De novo	synonymous SNV	NM_199179 NM_032123 NM_199180	c.A121C c.A271C c.A271C	p.R41R p.R91R p.R91R	-	-	Trost2022 G
KIRREL2	mAGRE5071	chr19: 36351199-36351199	A	AC	exonic		Maternal	frameshift insertion	NM_199179 NM_032123 NM_199180	c.525dupC c.675dupC c.675dupC	p.Y175fs p.Y225fs p.Y225fs	-	2.0E-4	Cirnigliaro2023 G
KIRREL2	mAGRE3011	chr19: 36351199-36351199	A	AC	exonic		Maternal	frameshift insertion	NM_199179 NM_032123 NM_199180	c.525dupC c.675dupC c.675dupC	p.Y175fs p.Y225fs p.Y225fs	-	2.0E-4	Cirnigliaro2023 G
KIRREL2	SSC05866	chr19: 36350434-36350434	A	T	exonic		De novo	nonsynonymous SNV	NM_199179 NM_032123 NM_199180	c.A424T c.A574T c.A574T	p.T142S p.T192S p.T192S	10.2	-	Fu2022 E Trost2022 G
KIRREL2	12462.p1	chr19: 36350434-36350434	A	T	exonic		De novo	nonsynonymous SNV	NM_199179 NM_032123 NM_199180	c.A424T c.A574T c.A574T	p.T142S p.T192S p.T192S	10.2	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
KIRREL2	mAGRE5842	chr19: 36351939-36351939	G	T	splicing		Maternal	splicing				15.31	2.687E-5	Cirnigliaro2023 G
KIRREL2	mAGRE6079	chr19: 36351475-36351476	CG	C	exonic		Maternal	frameshift deletion	NM_199179 NM_032123 NM_199180	c.685delG c.835delG c.835delG	p.V229fs p.V279fs p.V279fs	-	8.27E-6	Cirnigliaro2023 G

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Paper Information

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