Variant Results

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Results for "HAO2"

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
HAO2	DEASD_0380_001	chr1: 119927556-119927556	C	T	exonic		De novo	synonymous SNV	NM_016527 NM_001005783	c.C441T c.C480T	p.S147S p.S160S	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
HAO2	mAGRE1686	chr1: 119929329-119929329	C	T	exonic		Maternal	stopgain	NM_016527 NM_001005783	c.C646T c.C685T	p.R216X p.R229X	21.5	5.774E-5	Cirnigliaro2023 G
HAO2	mAGRE5599	chr1: 119927611-119927611	C	T	exonic		Maternal	stopgain	NM_016527 NM_001005783	c.C496T c.C535T	p.R166X p.R179X	14.05	2.475E-5	Cirnigliaro2023 G
HAO2	mAGRE5212	chr1: 119927601-119927601	T	TG	exonic		Maternal	frameshift insertion	NM_016527 NM_001005783	c.487dupG c.526dupG	p.C162fs p.C175fs	-	8.0E-4	Cirnigliaro2023 G
HAO2	mAGRE2940	chr1: 119927601-119927601	T	TG	exonic		Maternal	frameshift insertion	NM_016527 NM_001005783	c.487dupG c.526dupG	p.C162fs p.C175fs	-	8.0E-4	Cirnigliaro2023 G
HAO2	13298.p1	chr1: 119928587-119928587	T	C	intronic		De novo					-	-	Turner2016 G
HAO2	AU4234303	chr1: 119927601-119927601	T	TG	exonic		Maternal	frameshift insertion	NM_016527 NM_001005783	c.487dupG c.526dupG	p.C162fs p.C175fs	-	8.0E-4	Cirnigliaro2023 G
HAO2	AU4234302	chr1: 119927601-119927601	T	TG	exonic		Maternal	frameshift insertion	NM_016527 NM_001005783	c.487dupG c.526dupG	p.C162fs p.C175fs	-	8.0E-4	Cirnigliaro2023 G
HAO2	iHART1686	chr1: 119929329-119929329	C	T	exonic		Maternal	stopgain	NM_016527 NM_001005783	c.C646T c.C685T	p.R216X p.R229X	21.5	5.774E-5	Ruzzo2019 G
HAO2	1-0207-005	chr1: 119916232-119916232	T	G	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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