Variant Results

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Results for "KCTD9"

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
KCTD9	MSSNG00199-003	chr8: 25296912-25296912	T	A	exonic		De novo	nonsynonymous SNV	NM_017634	c.A382T	p.N128Y	24.7	-	Trost2022 G Zhou2022 GE
KCTD9	Kim2020:A9	chr8: 25293758-25293758	C	T	exonic		De novo	nonsynonymous SNV	NM_017634	c.G656A	p.R219Q	35.0	-	Kim2020 E
KCTD9	AU4145301	chr8: 25304589-25304589	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KCTD9	SP0101570	chr8: 25315678-25315678	A	T	intronic		De novo					-	-	Trost2022 G Trost2022 G
KCTD9	2-1370-003	chr8: 25306961-25306961	A	C	intronic		De novo					-	-	Trost2022 G
KCTD9	AU1725302	chr8: 25296876-25296876	G	A	exonic		Maternal	stopgain	NM_017634	c.C418T	p.R140X	35.0	8.327E-6	Cirnigliaro2023 G
KCTD9	SP0054427	chr8: 25315677-25315677	G	C	intronic		De novo					-	-	Trost2022 G Trost2022 G

Source Variant Information

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Paper Information

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