Variant Results

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Results for "CELF6"

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
CELF6	AU1404302	chr15: 72579372-72579372	G	A	intronic		De novo					-	-	Yuen2017 G
CELF6	DEASD_0273_001	chr15: 72579582-72579582	C	G	UTR3		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
CELF6	iHART2017	chr15: 72581213-72581213	G	C	exonic		Paternal	stopgain	NM_001172684 NM_052840	c.C1089G c.C1089G	p.Y363X p.Y363X	34.0	5.79E-5	Ruzzo2019 G
CELF6	3-0432-000	chr15: 72577828-72577831	CAAA	CAAAA	UTR3		De novo					-	-	Yuen2017 G
CELF6	Li2017:7	chr15: 72581629-72581629	C	T	splicing		Unknown	splicing				11.99	-	Li2017 T
CELF6	SP0032712	chr15: 72580647-72580647	A	G	splicing		De novo	splicing				21.3	-	Feliciano2019 E Fu2022 E
CELF6	SP0011398	chr15: 72581854-72581854	A	C	intronic		De novo					-	-	Fu2022 E
CELF6	SP0063192	chr15: 72581967-72581981	CCGCCGTGGTGTAGG	C	exonic		De novo	frameshift deletion	NM_001172685 NM_001172684 NM_052840	c.389_402del c.734_747del c.734_747del	p.A130fs p.A245fs p.A245fs	-	-	Fu2022 E

Source Variant Information

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Paper Information

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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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