Variant Results

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Results for "C14orf178"

Variant Events: 6

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
C14orf178	2-1429-003	chr14: 78249727-78249727	G	T	intergenic		De novo					-	-	Yuen2017 G
C14orf178	A1	chr14: 78253386-78253386	G	A	intergenic		De novo					-	-	Wu2018 G
C14orf178	mAGRE4545	chr14: 78235822-78235823	CT	C	exonic		Paternal	frameshift deletion	NM_001173978 NM_174943	c.81delT c.171delT	p.A27fs p.A57fs	-	3.0E-4	Cirnigliaro2023 G
C14orf178	mAGRE1536	chr14: 78235822-78235823	CT	C	exonic		Paternal	frameshift deletion	NM_001173978 NM_174943	c.81delT c.171delT	p.A27fs p.A57fs	-	3.0E-4	Cirnigliaro2023 G
C14orf178	SP0042850	chr14: 78227558-78227558	G	A	intronic		De novo					-	-	Fu2022 E
C14orf178	iHART1536	chr14: 78235822-78235823	CT	C	exonic		Paternal	frameshift deletion	NM_001173978 NM_174943	c.81delT c.171delT	p.A27fs p.A57fs	-	3.0E-4	Ruzzo2019 G

Source Variant Information

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Paper Information

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Pubmed
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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