Variant Results

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Results for "RPL14"

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
RPL14	PN400321	chr3: 40499001-40499018	GGCCCTTCCCGGACTCGC	G	intronic		Unknown					-	0.0032	Leblond2019 E
RPL14	1-0147-003	chr3: 40505897-40505904	TTCTACTC	T	intergenic		De novo					-	-	Trost2022 G
RPL14	NDAR_INVBX440FDB_wes1	chr3: 40500225-40500225	C	A	exonic		De novo	nonsynonymous SNV	NM_001034996 NM_003973	c.C198A c.C198A	p.H66Q p.H66Q	16.02	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RPL14	7-0130-003	chr3: 40514983-40514983	A	C	intergenic		De novo					-	-	Yuen2017 G
RPL14	PN400103	chr3: 40499001-40499018	GGCCCTTCCCGGACTCGC	G	intronic		Unknown					-	0.0032	Leblond2019 E
RPL14	PN400203	chr3: 40499001-40499018	GGCCCTTCCCGGACTCGC	G	intronic		Unknown					-	0.0032	Leblond2019 E
RPL14	200675765_1082034184	chr3: 40503520-40503520	A	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic		De novo	nonframeshift insertion	NM_001034996 NM_003973	c.445_446insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG c.445_446insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	p.T149delinsTAAAAAAAAAAAAA p.T149delinsTAAAAAAAAAAAAA	-	-	Fu2022 E

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Paper Information

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