Variant Results

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Results for "NFATC4"

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
NFATC4	SP0086064	chr14: 24845146-24845146	C	T	intronic		De novo					-	1.68E-5	Fu2022 E Trost2022 G
NFATC4	SP0112781	chr14: 24842892-24842892	T	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
NFATC4	08C73091	chr14: 24839331-24839331	C	A	exonic		De novo	nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.C727A c.C517A c.C691A c.C727A c.C916A c.C916A	p.P243T p.P173T p.P231T p.P243T p.P306T p.P306T	0.995	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
NFATC4	MSSNG00111-003	chr14: 24838941-24838941	T	A	exonic		De novo	nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.T337A c.T127A c.T301A c.T337A c.T526A c.T526A	p.C113S p.C43S p.C101S p.C113S p.C176S p.C176S	20.8	-	Trost2022 G Zhou2022 GE
NFATC4	2-1731-003	chr14: 24847521-24847521	G	A	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
NFATC4	SSC09405	chr14: 24843068-24843068	A	C	exonic		De novo	nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.A1727C c.A1517C c.A1691C c.A1727C c.A1916C c.A1916C	p.E576A p.E506A p.E564A p.E576A p.E639A p.E639A	21.5	-	Fu2022 E Lim2017 E Trost2022 G
NFATC4	AU2284301	chr14: 24839622-24839622	G	A	exonic			nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.G1018A c.G808A c.G982A c.G1018A c.G1207A c.G1207A	p.A340T p.A270T p.A328T p.A340T p.A403T p.A403T	10.45	-	Zhou2022 GE
NFATC4	13760.p1	chr14: 24843068-24843068	A	C	exonic		De novo	nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.A1727C c.A1517C c.A1691C c.A1727C c.A1916C c.A1916C	p.E576A p.E506A p.E564A p.E576A p.E639A p.E639A	21.5	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
NFATC4	AU2284301	chr14: 24839331-24839331	C	A	exonic			nonsynonymous SNV	NM_001198965 NM_001198966 NM_001288802 NM_004554 NM_001136022 NM_001198967	c.C727A c.C517A c.C691A c.C727A c.C916A c.C916A	p.P243T p.P173T p.P231T p.P243T p.P306T p.P306T	0.995	-	Zhou2022 GE

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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