Variant Results

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Results for "CHST4"

Variant Events: 7

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
CHST4	mAGRE1385	chr16: 71570592-71570593	TA	T	exonic		Maternal	frameshift deletion	NM_001166395 NM_005769	c.13delA c.13delA	p.K5fs p.K5fs	-	9.066E-6	Cirnigliaro2023 G
CHST4	AU050603	chr16: 71580097-71580097	G	A	intergenic		De novo					-	-	Yuen2017 G
CHST4	MT_76	chr16: 71571290-71571290	A	C	exonic		Paternal	nonsynonymous SNV	NM_001166395 NM_005769	c.A710C c.A710C	p.K237T p.K237T	11.56	2.478E-5	Toma2013 E
CHST4	mAGRE1388	chr16: 71570592-71570593	TA	T	exonic		Maternal	frameshift deletion	NM_001166395 NM_005769	c.13delA c.13delA	p.K5fs p.K5fs	-	9.066E-6	Cirnigliaro2023 G
CHST4	iHART1385	chr16: 71570592-71570593	TA	T	exonic		Maternal	frameshift deletion	NM_001166395 NM_005769	c.13delA c.13delA	p.K5fs p.K5fs	-	9.066E-6	Ruzzo2019 G
CHST4	iHART1388	chr16: 71570592-71570593	TA	T	exonic		Maternal	frameshift deletion	NM_001166395 NM_005769	c.13delA c.13delA	p.K5fs p.K5fs	-	9.066E-6	Ruzzo2019 G
CHST4	5-0009-003	chr16: 71571460-71571460	G	A	exonic		De novo	nonsynonymous SNV	NM_001166395 NM_005769	c.G880A c.G880A	p.V294M p.V294M	12.61	3.297E-5	Trost2022 G

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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