Variant Results

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Results for "SEMA6C"

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
SEMA6C	10C115243	chr1: 151107172-151107172	C	T	intronic		De novo					-	9.906E-5	Kosmicki2017 E
SEMA6C	10C109033	chr1: 151107392-151107392	C	T	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
SEMA6C	DEASD_0001_001	chr1: 151112158-151112158	C	T	exonic		De novo	nonsynonymous SNV	NM_001178061 NM_001178062 NM_030913	c.G253A c.G253A c.G253A	p.D85N p.D85N p.D85N	13.92	0.0013	DeRubeis2014 E Kosmicki2017 E
SEMA6C	2-1349-003	chr1: 151108022-151108022	A	ATCC	intronic		De novo					-	4.0E-4	Trost2022 G
SEMA6C	TRE_2726	chr1: 151105425-151105425	G	A	exonic		De novo	synonymous SNV	NM_001178062 NM_030913 NM_001178061	c.C2304T c.C2328T c.C2424T	p.G768G p.G776G p.G808G	-	-	Fu2022 E
SEMA6C	SP0035804	chr1: 151111921-151111921	C	G	exonic		De novo	nonsynonymous SNV	NM_001178061 NM_001178062 NM_030913	c.G334C c.G334C c.G334C	p.A112P p.A112P p.A112P	20.1	-	Fu2022 E Trost2022 G Zhou2022 GE
SEMA6C	13134.p1	chr1: 151107719-151107719	A	G	exonic		Mosaic Mat.	synonymous SNV	NM_001178062 NM_001178061 NM_030913	c.T1380C c.T1500C c.T1500C	p.G460G p.G500G p.G500G	-	2.472E-5	Dou2017 E
SEMA6C	SP0027104	chr1: 151115115-151115115	A	C	UTR5		De novo					-	-	Fu2022 E
SEMA6C	1-0387-003	chr1: 151107392-151107392	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
SEMA6C	AU3649304	chr1: 151112101-151112101	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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