Variant Results

or

Results for "NFIA"

Variant Events: 53

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

NFIA

1-0215-006

chr1:
62088291-62088291

G

A

intergenic

De novo

-

Yuen2017 G

NFIA

ACGC_SD0062.p1

chr1:
61554055-61554055

C

T

exonic

Unknown

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C262T
c.C238T
c.C262T
c.C397T

p.R88X
p.R80X
p.R88X
p.R133X

42.0

-

Wang2020 T

NFIA

AU4429301

chr1:
61779729-61779729

C

T

intronic

De novo

-

Yuen2017 G

NFIA

2-1242-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

NFIA

AU3846303

chr1:
61713234-61713234

C

T

intronic

De novo

-

Yuen2017 G

NFIA

AU3052301

chr1:
61691748-61691748

A

G

intronic

De novo

-

Yuen2017 G

NFIA

AU4054302

chr1:
61991724-61991724

T

A

intergenic

De novo

-

Yuen2017 G

NFIA

14370.p1

chr1:
61699921-61699921

C

T

intronic

De novo

-

Turner2016 G

NFIA

11252.p1

chr1:
61587930-61587930

C

T

intronic

De novo

-

Turner2016 G

NFIA

3-0391-000

chr1:
61444952-61444952

C

T

intergenic

De novo

-

Yuen2017 G

NFIA

ACGC_GX0482.p1

chr1:
61824863-61824863

C

G

exonic

Unknown

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C863G
c.C839G
c.C863G
c.C998G

p.P288R
p.P280R
p.P288R
p.P333R

27.3

-

Wang2020 T

NFIA

ACGC_M18917

chr1:
61892190-61892190

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134673
NM_001145511
NM_001145512

c.C1474T
c.C1450T
c.C1609T

p.R492W
p.R484W
p.R537W

25.2

-

Wang2020 T

NFIA

ACGC_HN0055.p1

chr1:
61892161-61892161

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134673
NM_001145511
NM_001145512

c.C1445T
c.C1421T
c.C1580T

p.P482L
p.P474L
p.P527L

23.6

-

Wang2020 T

NFIA

2-1466-003

chr1:
62066131-62066131

T

A

intergenic

De novo

-

Yuen2016 G

NFIA

AU069603

chr1:
61508744-61508744

G

A

intergenic

De novo

-

Yuen2017 G

NFIA

1-0278-003

chr1:
61886660-61886660

C

T

intronic

De novo

-

Yuen2016 G

NFIA

M15210

chr1:
61824914-61824914

G

A

exonic

Paternal

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.G914A
c.G890A
c.G914A
c.G1049A

p.S305N
p.S297N
p.S305N
p.S350N

31.0

3.299E-5

Guo2018 T
Wang2016 T

NFIA

ACGC_M08873

chr1:
61547681-61547681

C

A

exonic

Unknown

stopgain

NM_001145512

c.C66A

p.C22X

36.0

-

Wang2020 T

NFIA

M18917

chr1:
61892190-61892190

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134673
NM_001145511
NM_001145512

c.C1474T
c.C1450T
c.C1609T

p.R492W
p.R484W
p.R537W

25.2

-

Stessman2017 T

NFIA

M12382

chr1:
61892175-61892175

G

A

exonic

Paternal

nonsynonymous SNV

NM_001134673
NM_001145511
NM_001145512

c.G1459A
c.G1435A
c.G1594A

p.V487I
p.V479I
p.V532I

35.0

-

Guo2018 T
Wang2016 T

NFIA

Leuven_114928

chr1:
61824947-61824947

G

C

splicing

Unknown

splicing

25.7

-

Wang2020 T

NFIA

2-0109-003

chr1:
61858987-61858987

G

C

intronic

De novo

-

Yuen2017 G

NFIA

M08873

chr1:
61547681-61547681

C

A

exonic

Unknown

stopgain

NM_001145512

c.C66A

p.C22X

36.0

-

Guo2018 T
Wang2016 T

NFIA

AU011604

chr1:
61508775-61508775

G

A

intergenic

De novo

-

Yuen2017 G

NFIA

SP0032002

chr1:
61547738-61547738

C

G

intronic

De novo

-

Fu2022 E

NFIA

1-0054-003

chr1:
61938371-61938371

C

T

intergenic

De novo

-

Yuen2017 G

NFIA

1-0209-003

chr1:
61912406-61912406

T

C

intronic

De novo

-

Yuen2017 G

NFIA

SSC08191

chr1:
61553905-61553905

C

T

exonic

De novo

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C112T
c.C88T
c.C112T
c.C247T

p.R38X
p.R30X
p.R38X
p.R83X

40.0

-

Antaki2022 GE
Lim2017 E

NFIA

7-0160-003

chr1:
61545075-61545075

C

T

intronic

De novo

-

Yuen2017 G

NFIA

SSC10510

chr1:
61818236-61818236

C

T

exonic

De novo

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C815T
c.C791T
c.C815T
c.C950T

p.T272M
p.T264M
p.T272M
p.T317M

21.1

8.249E-6

Fu2022 E
Lim2017 E

NFIA

SP0110616

chr1:
61872231-61872231

C

A

intronic

De novo

-

8.671E-5

Fu2022 E

NFIA

AU3811301

chr1:
61901551-61901551

G

C

intronic

De novo

-

Yuen2017 G

NFIA

SD0062.p1

chr1:
61554055-61554055

C

T

exonic

Unknown

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C262T
c.C238T
c.C262T
c.C397T

p.R88X
p.R80X
p.R88X
p.R133X

42.0

-

Guo2018 T

NFIA

13670.p1

chr1:
61553905-61553905

C

T

exonic

De novo

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C112T
c.C88T
c.C112T
c.C247T

p.R38X
p.R30X
p.R38X
p.R83X

40.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E

NFIA

AU076704

chr1:
61580307-61580307

C

T

intronic

De novo

-

Yuen2017 G

NFIA

3-0448-000

chr1:
61650096-61650097

TG

TGG

intronic

De novo

-

Yuen2017 G

NFIA

AU3764302

chr1:
61943269-61943269

C

G

intergenic

De novo

-

Yuen2017 G

NFIA

AU3847302

chr1:
61827779-61827779

G

T

intronic

De novo

-

Yuen2017 G

NFIA

5-0033-004

chr1:
61573076-61573076

T

A

intronic

De novo

-

Yuen2017 G

NFIA

AU076704

chr1:
61898123-61898123

C

T

intronic

De novo

-

Yuen2017 G

NFIA

AU3847302

chr1:
61563060-61563060

A

T

intronic

De novo

-

Yuen2017 G

NFIA

13043.p1

chr1:
61567399-61567400

AT

A

intronic

De novo

-

Wilfert2021 G

NFIA

Radboud_11-08689

chr1:
61872391-61872391

C

A

exonic

Maternal

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C1412A
c.C1388A
c.C1412A
c.C1547A

p.T471K
p.T463K
p.T471K
p.T516K

35.0

-

Wang2020 T

NFIA

Radboud_11-08685

chr1:
61872391-61872391

C

A

exonic

Maternal

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C1412A
c.C1388A
c.C1412A
c.C1547A

p.T471K
p.T463K
p.T471K
p.T516K

35.0

-

Wang2020 T

NFIA

AU4159301

chr1:
61893738-61893738

C

T

intronic

De novo

-

Yuen2017 G

NFIA

2-0135-003

chr1:
61818513-61818513

A

C

intronic

De novo

-

Yuen2017 G

NFIA

Uddin2014:26

chr1:
61553905-61553905

C

T

exonic

De novo

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C112T
c.C88T
c.C112T
c.C247T

p.R38X
p.R30X
p.R38X
p.R83X

40.0

-

Uddin2014 E

NFIA

14127.p1

chr1:
61818236-61818236

C

T

exonic

De novo

nonsynonymous SNV

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C815T
c.C791T
c.C815T
c.C950T

p.T272M
p.T264M
p.T272M
p.T317M

21.1

8.249E-6

Ji2016 E
Krumm2015 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

NFIA

A23

chr1:
61809970-61809970

C

G

intronic

De novo

-

Wu2018 G

NFIA

AU3905301

chr1:
61826865-61826865

C

T

intronic

De novo

-

Yuen2017 G

NFIA

AU3907302

chr1:
61653987-61653987

A

G

intronic

De novo

-

Yuen2017 G

NFIA

1-0181-004

chr1:
61469422-61469422

G

A

intergenic

De novo

-

Yuen2017 G

NFIA

1-0508-003

chr1:
61533341-61533341

G

T

intergenic

De novo

-

Yuen2017 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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