Variant Results

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Results for "SEMA4C"

Variant Events: 10

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
SEMA4C	SP0089121	chr2: 97535609-97535609	T	G	intronic		De novo					-	-	Fu2022 E Trost2022 G Zhou2022 GE
SEMA4C	4-0062-003	chr2: 97532824-97532825	CA	TT	intronic		De novo					-	-	Trost2022 G
SEMA4C	4-0073-003	chr2: 97532824-97532825	CA	TT	intronic		De novo					-	-	Trost2022 G
SEMA4C	SP0027566	chr2: 97529485-97529485	G	T	exonic		De novo	nonsynonymous SNV	NM_017789	c.C1377A	p.H459Q	17.14	-	Fu2022 E Trost2022 G Zhou2022 GE
SEMA4C	2220_17mr	chr2: 97532108-97532108	G	A	exonic		De novo	nonsynonymous SNV	NM_017789	c.C170T	p.T57M	26.6	4.138E-5	Fu2022 E
SEMA4C	13154.p1	chr2: 97527629-97527629	C	T	exonic			synonymous SNV	NM_017789	c.G1446A	p.K482K	-	1.298E-5	Zhou2022 GE
SEMA4C	7-0078-003	chr2: 97526054-97526056	CAT	C	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
SEMA4C	SSC02077	chr2: 97529773-97529773	C	T	exonic		De novo	nonsynonymous SNV	NM_017789	c.G1220A	p.R407Q	11.22	-	Fu2022 E Lim2017 E Trost2022 G
SEMA4C	11046.p1	chr2: 97529773-97529773	C	T	exonic		De novo	nonsynonymous SNV	NM_017789	c.G1220A	p.R407Q	11.22	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
SEMA4C	SP0024026	chr2: 97530475-97530475	T	G	exonic		De novo	nonsynonymous SNV	NM_017789	c.A929C	p.N310T	10.49	2.0E-4	Trost2022 G Zhou2022 GE

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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