Variant Results

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Results for "ZC2HC1C"

Variant Events: 4

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
ZC2HC1C	Codina-Sola2015:ASD_22	chr14: 75538258-75538258	A	AG	exonic		Maternal	frameshift insertion	NM_024643	c.983dupG	p.R328fs	-	0.0024	Codina-Sola2015 E
ZC2HC1C	Shi2013:2	chr14: 75537322-75537322	A	AA	exonic		Inherited	frameshift insertion	NM_001042430 NM_024643	c.46dupA c.46dupA	p.M16fs p.M16fs	-	-	Shi2013 G
ZC2HC1C	SP0083117	chr14: 75538463-75538463	G	A	exonic		De novo	nonsynonymous SNV	NM_024643	c.G1187A	p.R396H	19.45	-	Fu2022 E
ZC2HC1C	Shi2013:1	chr14: 75537322-75537322	A	AA	exonic		Inherited	frameshift insertion	NM_001042430 NM_024643	c.46dupA c.46dupA	p.M16fs p.M16fs	-	-	Shi2013 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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