Variant Results

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Results for "ALKBH3"

Variant Events: 8

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
ALKBH3	1-0956-003	chr11: 43910533-43910533	C	T	intronic		De novo					-	-	Trost2022 G
ALKBH3	1-0955-003	chr11: 43915428-43915428	A	G	intronic		De novo					-	-	Trost2022 G
ALKBH3	SP0174304	chr11: 43908227-43908227	G	C	intronic		De novo					-	-	Trost2022 G
ALKBH3	mAGRE5718	chr11: 43941526-43941527	CA	C	exonic		Paternal	frameshift deletion	NM_139178	c.828delA	p.T276fs	-	8.247E-6	Cirnigliaro2023 G
ALKBH3	mAGRE5716	chr11: 43941526-43941527	CA	C	exonic		Paternal	frameshift deletion	NM_139178	c.828delA	p.T276fs	-	8.247E-6	Cirnigliaro2023 G
ALKBH3	mAGRE5567	chr11: 43941471-43941471	C	T	exonic		Paternal	stopgain	NM_139178	c.C772T	p.R258X	37.0	2.473E-5	Cirnigliaro2023 G
ALKBH3	AU3076302	chr11: 43923891-43923891	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ALKBH3	111305	chr11: 43941523-43941523	G	A	exonic			nonsynonymous SNV	NM_139178	c.G824A	p.R275Q	29.6	-	Woodbury-Smith2022 E

Source Variant Information

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Paper Information

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