Variant Results

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Results for "CCDC181"

Variant Events: 8

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
CCDC181	MSSNG00428-003	chr1: 169379671-169379671	A	G	intronic		De novo					-	-	Trost2022 G
CCDC181	11394.p1	chr1: 169390748-169390748	G	A	exonic		De novo	synonymous SNV	NM_001300969 NM_021179 NM_001300968	c.C921T c.C921T c.C921T	p.N307N p.N307N p.N307N	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
CCDC181	2-1407-003	Complex Event; expand row to view variants					De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
CCDC181	SSC02972	chr1: 169390748-169390748	G	A	exonic		De novo	synonymous SNV	NM_001300969 NM_021179 NM_001300968	c.C921T c.C921T c.C921T	p.N307N p.N307N p.N307N	-	-	Fu2022 E Lim2017 E Trost2022 G
CCDC181	1-0387-003	chr1: 169379332-169379332	T	C	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
CCDC181	MT_161.3	chr1: 169416263-169416263	C	T	intronic		De novo					-	-	Trost2022 G
CCDC181	EGAN00001101337	chr1: 169366462-169366462	G	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
CCDC181	Wang2023:498	chr1: 169391101-169391101	A	G	exonic		De novo	nonsynonymous SNV	NM_001300969 NM_021179 NM_001300968	c.T568C c.T568C c.T568C	p.C190R p.C190R p.C190R	1.024	-	Wang2023 E

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Paper Information

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Pubmed
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