Variant Results

or

Results for "NFATC1"

Variant Events: 30

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

NFATC1

AU4199303

chr18:
77302219-77302219

C

CCAT

intergenic

De novo

-

Yuen2017 G

NFATC1

12961.p1

chr18:
77160481-77160481

T

G

splicing

De novo

splicing

12.47

-

Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

NFATC1

2-1579-003

chr18:
77200666-77200666

G

A

intronic

De novo

-

Yuen2017 G

NFATC1

2-1591-003

chr18:
77169633-77169633

C

G

intronic

De novo

-

Yuen2017 G

NFATC1

2-1195-003

chr18:
77253663-77253663

T

C

intronic

De novo

-

Yuen2016 G

NFATC1

1-0435-003

chr18:
77203704-77203704

C

T

intronic

De novo

-

Yuen2017 G

NFATC1

1-0065-005

chr18:
77437846-77437846

G

A

intergenic

De novo

-

Yuen2017 G

NFATC1

2-1629-003

chr18:
77266645-77266650

ATTTTT

ATTTTTT

intronic

De novo

-

Yuen2017 G

NFATC1

2-0296-003

chr18:
77180937-77180937

C

G

intronic

De novo

-

Yuen2017 G

NFATC1

1-0511-003

chr18:
77174779-77174779

T

C

intronic

De novo

-

Yuen2017 G

NFATC1

2-0090-003

chr18:
77313590-77313590

G

A

intergenic

De novo

-

Yuen2017 G

NFATC1

09C89982

chr18:
77170989-77170989

C

T

exonic

De novo

synonymous SNV

NM_001278669
NM_001278670
NM_001278672
NM_001278675
NM_006162
NM_172387
NM_172389
NM_172390

c.C714T
c.C714T
c.C675T
c.C675T
c.C714T
c.C675T
c.C675T
c.C714T

p.P238P
p.P238P
p.P225P
p.P225P
p.P238P
p.P225P
p.P225P
p.P238P

-

Satterstrom2020 E

NFATC1

2-1207-003

chr18:
77236054-77236054

G

T

intronic

De novo

-

Yuen2016 G

NFATC1

1-0169-003

chr18:
77223481-77223481

C

CGTTCCCGTGTCCACACCGGCCTCTCCTCCCCGCAGCAT

intronic

De novo

-

Yuen2017 G

NFATC1

2-1114-003

chr18:
77404311-77404311

G

A

intergenic

De novo

-

Yuen2017 G

NFATC1

AU2793302

chr18:
77198025-77198025

C

T

intronic

De novo

-

Yuen2017 G

NFATC1

72-1047

chr18:
77208917-77208917

G

A

exonic

Inherited

nonsynonymous SNV

NM_001278673
NM_172388
NM_001278669
NM_001278670
NM_001278672
NM_001278675
NM_006162
NM_172387
NM_172389
NM_172390

c.G106A
c.G106A
c.G1522A
c.G1522A
c.G1483A
c.G1483A
c.G1522A
c.G1483A
c.G1483A
c.G1522A

p.E36K
p.E36K
p.E508K
p.E508K
p.E495K
p.E495K
p.E508K
p.E495K
p.E495K
p.E508K

31.0

-

Patowary2019 E

NFATC1

A32

chr18:
77230727-77230727

T

C

intronic

De novo

-

Wu2018 G

NFATC1

1-0080-003

chr18:
77372637-77372637

G

C

intergenic

De novo

-

Yuen2017 G

NFATC1

AU2029301

chr18:
77394078-77394083

GTGATG

GTG

intergenic

De novo

-

Yuen2017 G

NFATC1

1-0496-003

chr18:
77318720-77318720

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NFATC1

2-0242-004

chr18:
77221320-77221320

A

G

exonic

De novo

nonsynonymous SNV

NM_001278673
NM_172388
NM_001278669
NM_001278670
NM_001278672
NM_001278675
NM_006162
NM_172387
NM_172389
NM_172390

c.A497G
c.A497G
c.A1913G
c.A1913G
c.A1874G
c.A1874G
c.A1913G
c.A1874G
c.A1874G
c.A1913G

p.H166R
p.H166R
p.H638R
p.H638R
p.H625R
p.H625R
p.H638R
p.H625R
p.H625R
p.H638R

10.41

8.268E-6

Yuen2017 G

NFATC1

AU3122301

chr18:
77170989-77170989

C

T

exonic

De novo

synonymous SNV

NM_001278669
NM_001278670
NM_001278672
NM_001278675
NM_006162
NM_172387
NM_172389
NM_172390

c.C714T
c.C714T
c.C675T
c.C675T
c.C714T
c.C675T
c.C675T
c.C714T

p.P238P
p.P238P
p.P225P
p.P225P
p.P238P
p.P225P
p.P225P
p.P238P

-

Yuen2017 G

NFATC1

AU3729303

chr18:
77251111-77251111

G

T

intronic

De novo

-

Yuen2017 G

NFATC1

1-0383-003

chr18:
77324122-77324122

T

G

intergenic

De novo

-

Yuen2017 G

NFATC1

1-0627-006

chr18:
77223487-77223487

C

T

intronic

De novo

-

Yuen2017 G

NFATC1

5-0140-003

chr18:
77315721-77315721

C

T

intergenic

De novo

-

Yuen2017 G

NFATC1

13069.p1

chr18:
77378345-77378345

C

T

intergenic

De novo

-

Turner2016 G

NFATC1

AU4237301

chr18:
77308242-77308242

G

A

intergenic

De novo

-

Yuen2017 G

NFATC1

63-343

chr18:
77191334-77191334

G

A

intronic

De novo

-

Michaelson2012 G

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
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