Variant Results

or

Results for "NF1"

Variant Events: 66

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

3-0140-000

chr17:
29480036-29480036

T

A

intronic

De novo

-

Trost2022 G

NF1

Zhang2023:ASD0162

chr17:
29679273-29679273

A

T

splicing

De novo

splicing

22.7

-

Zhang2023 G

NF1

3-0706-000A

chr17:
29482413-29482413

G

A

intronic

De novo

-

Trost2022 G

NF1

2-0205-003

chr17:
29473272-29473272

A

G

intronic

De novo

-

Trost2022 G

NF1

1-0760-003

chr17:
29474968-29474968

A

G

intronic

De novo

-

Trost2022 G

NF1

5-0015-004

chr17:
29680159-29680159

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

SP0142489

chr17:
29587374-29587374

T

C

intronic

De novo

-

Trost2022 G

NF1

7-0266-003

chr17:
29536050-29536050

A

G

intronic

De novo

-

Trost2022 G

NF1

REACH000159

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

NF1

SP0002124

chr17:
29528406-29528406

C

CT

intronic

De novo

-

0.0055

Trost2022 G

NF1

MSSNG00053-003

chr17:
29533980-29533982

CTT

C

intronic

De novo

-

Trost2022 G

NF1

5-0049-003

chr17:
29504000-29504000

A

T

intronic

De novo

-

Trost2022 G

NF1

MSSNG00352-003

chr17:
29522248-29522248

C

CT

intronic

De novo

-

Trost2022 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

-

Trost2022 G
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

AU065503

chr17:
29548968-29548968

T

TT

exonic

Maternal

frameshift insertion

NM_001128147

c.1742dupT

p.L581fs

-

Zhou2019 T

NF1

7-0449-003

chr17:
29661093-29661093

A

G

intronic

De novo

-

Trost2022 G

NF1

AU065403

chr17:
29548968-29548968

T

TT

exonic

Maternal

frameshift insertion

NM_001128147

c.1742dupT

p.L581fs

-

Zhou2019 T

NF1

SSC00803

chr17:
29676099-29676103

TCTTA

T

intronic

De novo

-

4.137E-5

Trost2022 G

NF1

7-0240-005

chr17:
29585394-29585394

C

T

exonic

De novo

synonymous SNV

NM_000267
NM_001042492

c.C4143T
c.C4206T

p.I1381I
p.I1402I

-

Trost2022 G
Zhou2022 GE

NF1

SP0128843

chr17:
29508506-29508507

AG

T

exonic

frameshift substitution

NM_000267
NM_001042492
NM_001128147

c.653_654T
c.653_654T
c.653_654T

N/A
N/A
N/A

-

Zhou2022 GE

NF1

1-0098-003A

chr17:
29661858-29661859

AT

A

exonic

De novo

frameshift deletion

NM_000267
NM_001042492

c.5753delT
c.5816delT

p.I1918fs
p.I1939fs

-

Trost2022 G
Zhou2022 GE

NF1

3-0454-000

chr17:
29592359-29592359

T

C

splicing

De novo

splicing

25.7

-

Trost2022 G
Zhou2022 GE

NF1

1-0051-004

chr17:
29629314-29629314

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

AU1860301

chr17:
29456251-29456251

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

AU2215302

chr17:
29672736-29672736

A

G

intronic

De novo

-

Yuen2017 G

NF1

AU4219302

chr17:
29547287-29547287

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

009-07-107601

chr17:
29670026-29670026

G

C

splicing

De novo

splicing

23.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NF1

2-0299-003

chr17:
29493176-29493176

A

G

intronic

De novo

-

Trost2022 G
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
Trost2022 G
Zhou2022 GE

NF1

1-0564-003

chr17:
29671593-29671607

TGAGAGAGAGAGAGA

TGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

NF1

SP0028215

chr17:
29679350-29679350

C

T

exonic

De novo

synonymous SNV

NM_000267
NM_001042492

c.C7470T
c.C7533T

p.V2490V
p.V2511V

-

3.297E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

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
Zhou2022 GE

NF1

2-1361-003

chr17:
29523865-29523865

T

C

intronic

De novo

-

Yuen2017 G

NF1

SP0016289

chr17:
29556317-29556317

T

G

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492

c.T2684G
c.T2684G

p.M895R
p.M895R

16.69

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NF1

SP0136128

chr17:
29557816-29557816

C

G

intronic

De novo

-

Fu2022 E

NF1

SP0141768

chr17:
29563000-29563004

CTGAT

C

exonic

De novo

frameshift deletion

NM_000267
NM_001042492

c.3936_3939del
c.3936_3939del

p.S1312fs
p.S1312fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NF1

SP0010889

chr17:
29490220-29490220

T

G

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492
NM_001128147

c.T305G
c.T305G
c.T305G

p.M102R
p.M102R
p.M102R

13.51

-

Fu2022 E

NF1

SP0139142

chr17:
29687571-29687571

C

G

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492

c.C8164G
c.C8227G

p.L2722V
p.L2743V

16.43

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NF1

2-1577-003

chr17:
29643232-29643232

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

NF1

TAS_F7056X

chr17:
29562925-29562925

C

T

intronic

De novo

-

1.648E-5

Satterstrom2020 E
Trost2022 G

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

NF1

SP0239094

chr17:
29559901-29559901

T

G

splicing

De novo

splicing

19.3

-

Trost2022 G
Zhou2022 GE

NF1

SP0214294

chr17:
29528489-29528489

C

T

exonic

stopgain

NM_000267
NM_001042492
NM_001128147

c.C1246T
c.C1246T
c.C1246T

p.R416X
p.R416X
p.R416X

26.6

8.365E-6

Zhou2022 GE

NF1

7-0002-003

chr17:
29627262-29627263

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

SP0247928

chr17:
29588776-29588776

T

G

exonic

nonsynonymous SNV

NM_000267
NM_001042492

c.T4562G
c.T4625G

p.L1521R
p.L1542R

27.1

-

Zhou2022 GE

NF1

AU0452303

chr17:
29507773-29507773

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

SP0161862

chr17:
29585521-29585521

G

T

splicing

De novo

splicing

27.8

-

Trost2022 G
Zhou2022 GE

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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NF1

SP0264157

chr17:
29684326-29684326

C

T

exonic

stopgain

NM_000267
NM_001042492

c.C7846T
c.C7909T

p.R2616X
p.R2637X

35.0

-

Zhou2022 GE

NF1

SP0322508

chr17:
29676174-29676174

C

T

exonic

nonsynonymous SNV

NM_000267
NM_001042492

c.C7163T
c.C7226T

p.T2388I
p.T2409I

29.9

-

Zhou2022 GE

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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NF1

13314.p1

chr17:
29460697-29460699

CAG

C

intronic

De novo

-

Werling2018 G

NF1

Hu2022:3

chr17:
29552152-29552152

G

A

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492

c.G1885A
c.G1885A

p.G629R
p.G629R

11.81

1.65E-5

Hu2022 T

NF1

AU047703

chr17:
29691553-29691553

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NF1

SP0016664

chr17:
29683983-29683985

CAG

C

exonic

De novo

frameshift deletion

NM_000267
NM_001042492

c.7682_7683del
c.7745_7746del

p.Q2561fs
p.Q2582fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

NF1

SP0099595

chr17:
29665757-29665757

C

A

exonic

De novo

stopgain

NM_000267
NM_001042492

c.C6792A
c.C6855A

p.Y2264X
p.Y2285X

24.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

NF1

SP0128843

chr17:
29508502-29508503

GA

G

exonic

De novo

frameshift deletion

NM_000267
NM_001042492
NM_001128147

c.650delA
c.650delA
c.650delA

p.E217fs
p.E217fs
p.E217fs

-

Antaki2022 GE
Fu2022 E

NF1

AU4356302

chr17:
29626181-29626181

T

C

intronic

De novo

-

Trost2022 G
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

-

Fu2022 E

NF1

150477

chr17:
29560019-29560019

G

C

splicing

De novo

splicing

15.92

-

Fu2022 E

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

-

Fu2022 E

NF1

ASC_11149-1

chr17:
29508500-29508500

T

C

exonic

De novo

nonsynonymous SNV

NM_000267
NM_001042492
NM_001128147

c.T647C
c.T647C
c.T647C

p.L216P
p.L216P
p.L216P

23.4

-

Fu2022 E

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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