Variant Results

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Results for "RPL4"

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
RPL4	GEA435	chr15: 66793794-66793794	G	A	exonic		De novo	nonsynonymous SNV	NM_000968	c.C595T	p.R199C	24.0	-	Fu2022 E
RPL4	24.s1	chr15: 66792636-66792636	T	C	exonic		De novo	synonymous SNV	NM_000968	c.A912G	p.A304A	-	-	An2014 E
RPL4	DEASD_1105_001	chr15: 66794959-66794959	T	C	exonic		De novo	nonsynonymous SNV	NM_000968	c.A412G	p.M138V	14.52	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RPL4	SP0053825	chr15: 66791919-66791919	C	A	exonic		De novo	synonymous SNV	NM_000968	c.G1110T	p.A370A	-	-	Fu2022 E Trost2022 G Zhou2022 GE
RPL4	1-0046-003	chr15: 66797154-66797154	C	A	UTR5		De novo					-	-	Yuen2016 G Yuen2017 G
RPL4	SP0161178	chr15: 66793318-66793318	G	A	exonic		De novo	nonsynonymous SNV	NM_000968	c.C802T	p.R268C	28.4	-	Trost2022 G
RPL4	SP0167627	chr15: 66795738-66795738	G	A	exonic		De novo	nonsynonymous SNV	NM_000968	c.C133T	p.R45C	20.9	-	Trost2022 G
RPL4	2-0244-003	chr15: 66792088-66792088	A	C	intronic		De novo					-	-	Trost2022 G
RPL4	SP0203881	chr15: 66792730-66792730	T	C	intronic		De novo					-	2.478E-5	Trost2022 G
RPL4	14639.p1	chr15: 66792423-66792423	G	A	exonic			nonsynonymous SNV	NM_000968	c.C1009T	p.R337W	23.7	8.238E-6	Zhou2022 GE

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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