Variant Results

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Results for "KDM5C"

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
KDM5C	Mahjani2021:50	chrX: 53240726-53240726	C	T	exonic			nonsynonymous SNV	NM_001146702 NM_001282622 NM_004187	c.G1153A c.G1351A c.G1354A	p.G385S p.G451S p.G452S	29.6	-	Mahjani2021 E
KDM5C	Alvarez-Mora2016:ASD-11	chrX: 53224196-53224196	T	G	exonic		Unknown	nonsynonymous SNV	NM_001146702 NM_001282622 NM_004187	c.A3154C c.A3352C c.A3355C	p.M1052L p.M1118L p.M1119L	13.21	-	Alvarez-Mora2016 T
KDM5C	G01-GEA-236-HI	chrX: 53239954-53239954	C	A	exonic		De novo	nonsynonymous SNV	NM_001146702 NM_001282622 NM_004187	c.G1286T c.G1484T c.G1487T	p.G429V p.G495V p.G496V	20.9	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
KDM5C	Yamamoto2019:13	chrX: 53243999-53243999	G	A	exonic		Maternal	stopgain	NM_001146702 NM_001282622 NM_004187	c.C793T c.C991T c.C994T	p.R265X p.R331X p.R332X	43.0	-	Yamamoto2019 T
KDM5C	SP0030164	chrX: 53230752-53230752	G	A	exonic			stopgain	NM_001146702 NM_001282622 NM_004187	c.C1840T c.C2038T c.C2041T	p.R614X p.R680X p.R681X	45.0	-	Zhou2022 GE
KDM5C	SJD_49	chrX: 53240828-53240828	T	C	exonic		Maternal	nonsynonymous SNV	NM_001146702 NM_001282622 NM_004187	c.A1051G c.A1249G c.A1252G	p.T351A p.T417A p.T418A	17.69	-	Toma2013 E
KDM5C	Chen2021:57	chrX: 53246342-53246342	T	TT	exonic		Maternal	frameshift insertion	NM_001146702 NM_001282622 NM_004187	c.439dupA c.637dupA c.640dupA	p.K147fs p.K213fs p.K214fs	-	-	Chen2021 GET

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Paper Information

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