Variant Results

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Results for "KCTD21"

Variant Events: 6

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
KCTD21	SP0205140	chr11: 77897798-77897798	C	T	intronic		De novo					-	-	Trost2022 G
KCTD21	7-0226-003	chr11: 77887788-77887788	C	A	intronic		De novo					-	-	Trost2022 G
KCTD21	SJD_34	chr11: 77885347-77885347	T	C	exonic		Paternal	nonsynonymous SNV	NM_001029859	c.A254G	p.D85G	24.6	-	Toma2013 E
KCTD21	Al-Mubarak2017:ASD-16	chr11: 77885449-77885449	C	T	exonic		Unknown	nonsynonymous SNV	NM_001029859	c.G152A	p.R51H	29.8	1.0E-4	Al-Mubarak2017 E
KCTD21	mAGRE4052	chr11: 77884864-77884865	AG	A	splicing;exonic		Maternal	frameshift deletion	NM_001029859	c.736delC	p.L246fs	-	-	Cirnigliaro2023 G
KCTD21	mAGRE4051	chr11: 77884864-77884865	AG	A	splicing;exonic		Maternal	frameshift deletion	NM_001029859	c.736delC	p.L246fs	-	-	Cirnigliaro2023 G

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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