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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     SP0086064chr14:
24845146-24845146
CTintronicDe novo-1.68E-5Fu2022 E
Trost2022 G
NFATC4     08C73091chr14:
24839331-24839331
CAexonicDe novononsynonymous SNVNM_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     SP0112781chr14:
24842892-24842892
TCintronicDe novo--Fu2022 E
Trost2022 G
NFATC4     MSSNG00111-003chr14:
24838941-24838941
TAexonicDe novononsynonymous SNVNM_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     2-1731-003chr14:
24847521-24847521
GAUTR3De novo--Trost2022 G
Yuen2017 G
NFATC4     SSC09405chr14:
24843068-24843068
ACexonicDe novononsynonymous SNVNM_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     AU2284301chr14:
24839622-24839622
GAexonicnonsynonymous SNVNM_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.p1chr14:
24843068-24843068
ACexonicDe novononsynonymous SNVNM_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     AU2284301chr14:
24839331-24839331
CAexonicnonsynonymous SNVNM_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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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 notesView
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