Variant Results

or

Results for "NF1"

Variant Events: 28

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

NF1

5-0015-004

chr17:
29680159-29680159

T

A

intronic

De novo

-

Yuen2017 G

NF1

AU2756306

chr17:
29616842-29616842

T

A

intronic

De novo

-

Yuen2017 G

NF1

1-0918-003

chr17:
29694990-29694990

T

A

intronic

De novo

-

Yuen2017 G

NF1

AU099703

chr17:
29548968-29548968

T

TT

exonic

Maternal

frameshift insertion

NM_001128147

c.1742dupT

p.L581fs

-

Zhou2019 T

NF1

11108.p1

chr17:
29676099-29676103

TCTTA

T

intronic

De novo

-

4.137E-5

Dong2014 E
Kosmicki2017 E
Satterstrom2020 E

NF1

7-0002-003

chr17:
29627262-29627263

CT

C

intronic

De novo

-

Yuen2017 G

NF1

AU0452303

chr17:
29507773-29507773

G

A

intronic

De novo

-

Yuen2017 G

NF1

AU065503

chr17:
29548968-29548968

T

TT

exonic

Maternal

frameshift insertion

NM_001128147

c.1742dupT

p.L581fs

-

Zhou2019 T

NF1

010-07-107482

chr17:
29661900-29661900

C

G

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492

c.C5794G
c.C5857G

p.L1932V
p.L1953V

22.8

-

Satterstrom2020 E

NF1

AU065403

chr17:
29548968-29548968

T

TT

exonic

Maternal

frameshift insertion

NM_001128147

c.1742dupT

p.L581fs

-

Zhou2019 T

NF1

DEASD_1052_001

chr17:
29667594-29667594

T

A

exonic

De novo

stopgain

NM_000267
NM_001042492

c.T6930A
c.T6993A

p.Y2310X
p.Y2331X

27.0

-

Satterstrom2020 E

NF1

13314.p1

chr17:
29460697-29460699

CAG

C

intronic

De novo

-

Werling2018 G

NF1

1-0051-004

chr17:
29629314-29629314

T

C

intronic

De novo

-

Yuen2017 G

NF1

AU1860301

chr17:
29456251-29456251

A

G

intronic

De novo

-

Yuen2017 G

NF1

AU2215302

chr17:
29672736-29672736

A

G

intronic

De novo

-

Yuen2017 G

NF1

AU047703

chr17:
29691553-29691553

A

C

intronic

De novo

-

Yuen2017 G

NF1

AU4219302

chr17:
29547287-29547287

C

A

intronic

De novo

-

Yuen2017 G

NF1

009-07-107601

chr17:
29670026-29670026

G

C

splicing

De novo

splicing

23.0

-

Satterstrom2020 E

NF1

2-0299-003

chr17:
29493176-29493176

A

G

intronic

De novo

-

Yuen2017 G

NF1

13882.p1

chr17:
29559852-29559852

C

G

exonic

De novo

stopgain

NM_000267
NM_001042492

c.C3449G
c.C3449G

p.S1150X
p.S1150X

47.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

NF1

1-0564-003

chr17:
29671593-29671607

TGAGAGAGAGAGAGA

TGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

NF1

11782.p1

chr17:
29677317-29677317

C

A

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492

c.C7375A
c.C7438A

p.H2459N
p.H2480N

11.17

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Sanders2012 E
Wilfert2021 G

NF1

2-1361-003

chr17:
29523865-29523865

T

C

intronic

De novo

-

Yuen2017 G

NF1

2-1577-003

chr17:
29643232-29643232

G

A

intronic

De novo

-

Yuen2017 G

NF1

AU4356302

chr17:
29626181-29626181

T

C

intronic

De novo

-

Yuen2017 G

NF1

TAS_F7056X

chr17:
29562925-29562925

C

T

intronic

De novo

-

1.648E-5

Satterstrom2020 E

NF1

MT_151

chr17:
29684327-29684327

G

A

exonic

Paternal

nonsynonymous SNV

NM_000267
NM_001042492

c.G7847A
c.G7910A

p.R2616Q
p.R2637Q

25.6

3.298E-5

Toma2013 E

NF1

2-0323-004

chr17:
29620236-29620236

T

C

intronic

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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