Variant Results

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Results for "RNF144A"

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
RNF144A	1-0006-003	chr2: 7102247-7102247	G	A	intronic		De novo					-	-	Yuen2017 G
RNF144A	SP0118279	chr2: 7183569-7183569	T	C	UTR3		De novo					-	-	Fu2022 E
RNF144A	2-0296-003	chr2: 7168627-7168627	A	G	intronic		De novo					-	-	Yuen2017 G
RNF144A	SP0012788	chr2: 7184025-7184025	A	G	UTR3		De novo					-	-	Fu2022 E
RNF144A	74-0265	chr2: 7101172-7101172	A	G	intronic		Inherited					-	-	Michaelson2012 G
RNF144A	2-0225-004	chr2: 7133353-7133353	G	T	intronic		De novo					-	-	Yuen2017 G
RNF144A	A29	chr2: 7068223-7068223	C	T	intronic		De novo					-	-	Wu2018 G

Source Variant Information

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Paper Information

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Pubmed
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