Variant Results

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Results for "EXOC3L4"

Variant Events: 9

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
EXOC3L4	SP0124083	chr14: 103576500-103576500	C	T	exonic		De novo	synonymous SNV	NM_001077594	c.C2109T	p.R703R	-	1.0E-4	Fu2022 E Trost2022 G Zhou2022 GE
EXOC3L4	AU1988302	chr14: 103579486-103579486	G	A	intergenic		De novo					-	-	Yuen2017 G
EXOC3L4	ASC_CA_179_A	chr14: 103576803-103576803	C	CGG	UTR3		De novo					-	-	Fu2022 E
EXOC3L4	mAGRE5443	chr14: 103566788-103566788	C	T	exonic		Maternal	stopgain	NM_001077594	c.C232T	p.R78X	18.92	8.677E-5	Cirnigliaro2023 G
EXOC3L4	mAGRE5101	chr14: 103566765-103566766	AG	A	exonic		Paternal	frameshift deletion	NM_001077594	c.210delG	p.K70fs	-	1.86E-5	Cirnigliaro2023 G
EXOC3L4	mAGRE1818	chr14: 103566765-103566766	AG	A	exonic		Paternal	frameshift deletion	NM_001077594	c.210delG	p.K70fs	-	1.86E-5	Cirnigliaro2023 G
EXOC3L4	iHART1818	chr14: 103566765-103566766	AG	A	exonic		Paternal	frameshift deletion	NM_001077594	c.210delG	p.K70fs	-	1.86E-5	Ruzzo2019 G
EXOC3L4	SJD_27.3	chr14: 103577226-103577226	G	A	downstream		De novo					-	-	Trost2022 G
EXOC3L4	1-0458-004	chr14: 103575283-103575283	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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