Variant Results

or

Results for "NF2"

Variant Events: 19

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

NF2

3-0648-000

chr22:
30015045-30015045

C

CT

intronic

De novo

-

Trost2022 G

NF2

MSSNG00404-003

chr22:
30014089-30014089

C

A

intronic

De novo

-

Trost2022 G

NF2

1-1162-003

chr22:
30013684-30013684

C

T

intronic

De novo

-

Trost2022 G

NF2

REACH000423

chr22:
30010757-30010757

C

G

intronic

De novo

-

Trost2022 G

NF2

4-0062-003

chr22:
30093915-30093921

TCAAGCC

T

UTR3

De novo

-

Trost2022 G

NF2

SSC02852

chr22:
30090798-30090798

A

C

UTR3

De novo

17.6

5.0E-4

Trost2022 G

NF2

SP0098898

chr22:
30000022-30000026

GCTCT

G

exonic

frameshift deletion

NM_000268
NM_016418
NM_181825
NM_181828
NM_181829
NM_181830
NM_181831
NM_181832
NM_181833

c.36_39del
c.36_39del
c.36_39del
c.36_39del
c.36_39del
c.36_39del
c.36_39del
c.36_39del
c.36_39del

p.S12fs
p.S12fs
p.S12fs
p.S12fs
p.S12fs
p.S12fs
p.S12fs
p.S12fs
p.S12fs

-

Zhou2022 GE

NF2

MT_151.4

chr22:
30088889-30088889

C

T

intronic

De novo

-

Trost2022 G

NF2

2-1416-004

chr22:
30039323-30039323

A

G

intronic

De novo

-

Yuen2017 G

NF2

1-0289-004

chr22:
30072998-30073000

TTG

AGAT

intronic

De novo

-

Trost2022 G

NF2

11010.p1

chr22:
30090798-30090798

A

C

UTR3

De novo

17.6

5.0E-4

Satterstrom2020 E

NF2

2-1258-004

chr22:
30072998-30073000

TTG

AGAT

intronic

De novo

-

Trost2022 G

NF2

1-0347-003

chr22:
30072998-30073000

TTG

AGAT

intronic

De novo

-

Trost2022 G

NF2

2-1562-003

chr22:
30072998-30073000

TTG

AGAT

intronic

De novo

-

Trost2022 G

NF2

2-1686-003

chr22:
30044950-30044950

T

TTATTGG

intronic

De novo

-

Trost2022 G

NF2

TAS_F5044Y

chr22:
30032936-30032936

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NF2

SP0049299

chr22:
30061058-30061058

G

A

intronic

-

Zhou2022 GE

NF2

P019

chr22:
30069261-30069261

C

T

exonic

De novo

nonsynonymous SNV

NM_181830
NM_181831
NM_181828
NM_181829
NM_000268
NM_016418
NM_181825
NM_181832

c.C877T
c.C877T
c.C1000T
c.C1003T
c.C1126T
c.C1126T
c.C1126T
c.C1126T

p.R293W
p.R293W
p.R334W
p.R335W
p.R376W
p.R376W
p.R376W
p.R376W

23.4

-

Long2019 ET

NF2

2-1322-003

chr22:
30075328-30075328

C

G

intronic

De novo

-

Trost2022 G
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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