Variant Results

or

or

Results for "CHDH"

Variant Events: 9

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
CHDH	mAGRE2020	chr3: 53857550-53857551	GT	G	exonic		Maternal	frameshift deletion	NM_018397	c.485delA	p.H162fs	-	-	Cirnigliaro2023 G
CHDH	mAGRE6162	chr3: 53857368-53857368	T	TTA	exonic		Paternal	frameshift insertion	NM_018397	c.667_668insTA	p.E223fs	-	3.0E-4	Cirnigliaro2023 G
CHDH	mAGRE5347	chr3: 53852145-53852145	G	A	exonic		Paternal	stopgain	NM_018397	c.C1444T	p.R482X	41.0	1.652E-5	Cirnigliaro2023 G
CHDH	JASD_Fam0149	chr3: 53857760-53857760	C	T	exonic		De novo	synonymous SNV	NM_018397	c.G276A	p.A92A	-	5.903E-5	Takata2018 E
CHDH	iHART2020	chr3: 53857550-53857551	GT	G	exonic		Maternal	frameshift deletion	NM_018397	c.485delA	p.H162fs	-	-	Ruzzo2019 G
CHDH	NP152	chr3: 53857760-53857760	C	T	exonic		De novo	synonymous SNV	NM_018397	c.G276A	p.A92A	-	5.903E-5	Fu2022 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CHDH	REACH000537	chr3: 53877363-53877363	C	A	intronic		De novo					-	-	Trost2022 G
CHDH	MSSNG00005-003	chr3: 53865475-53865475	T	TTGGGCAAGACCC	intronic		De novo					-	-	Trost2022 G
CHDH	SP0011734	chr3: 53852228-53852228	G	A	intronic		De novo					-	9.769E-6	Fu2022 E Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More