Variant Results

or

Results for "NRCAM"

Variant Events: 36

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

NRCAM

3-0447-000

chr7:
107994791-107994791

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

2-0244-003

chr7:
107833860-107833860

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-1159-003

chr7:
107830148-107830148

A

G

exonic

De novo

nonsynonymous SNV

NM_001037132
NM_005010
NM_001193583
NM_001193584
NM_001193582

c.T1976C
c.T1928C
c.T1919C
c.T1919C
c.T1976C

p.L659P
p.L643P
p.L640P
p.L640P
p.L659P

12.4

-

Trost2022 G
Zhou2022 GE

NRCAM

MT_107.3

chr7:
107902765-107902765

G

GGT

intronic

De novo

-

Trost2022 G

NRCAM

7-0365-003

chr7:
107967244-107967244

A

G

intronic

De novo

-

Trost2022 G

NRCAM

SJD_50.5

chr7:
107855757-107855757

C

T

intronic

De novo

-

Trost2022 G

NRCAM

1-0332-003

chr7:
107847659-107847659

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

MSSNG00164-003

chr7:
107872461-107872461

A

G

intronic

De novo

-

Trost2022 G

NRCAM

SP0206205

chr7:
107850016-107850016

A

G

exonic

De novo

synonymous SNV

NM_001037132
NM_001193583
NM_001193584
NM_005010
NM_001193582

c.T924C
c.T867C
c.T867C
c.T906C
c.T924C

p.D308D
p.D289D
p.D289D
p.D302D
p.D308D

-

Trost2022 G

NRCAM

3-0878-000

chr7:
107851510-107851510

T

G

intronic

De novo

-

Trost2022 G

NRCAM

MT_195.3

chr7:
107796394-107796394

C

T

intronic

De novo

-

Trost2022 G

NRCAM

1-0218-004

chr7:
108090583-108090583

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-1196-003

chr7:
107835666-107835666

A

C

intronic

De novo

-

Trost2022 G

NRCAM

13964.p1

chr7:
107810334-107810334

T

C

intronic

De novo

-

Turner2016 G

NRCAM

AU2123301

chr7:
108026407-108026407

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

AU2320301

chr7:
108078393-108078393

T

C

intronic

De novo

-

Trost2022 G

NRCAM

REACH000597

chr7:
108080707-108080707

C

T

intronic

De novo

-

Trost2022 G

NRCAM

3-0533-000

chr7:
108051138-108051138

C

T

intronic

De novo

-

Trost2022 G

NRCAM

3-0191-000

chr7:
108073385-108073385

A

G

intronic

De novo

-

Trost2022 G

NRCAM

1-0368-004

chr7:
108027647-108027650

TTAA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0215-006

chr7:
108028689-108028689

T

G

intronic

De novo

-

Trost2022 G

NRCAM

2-1821-003

chr7:
108037727-108037727

A

G

intronic

De novo

-

Trost2022 G

NRCAM

AU4013303

chr7:
108001928-108001928

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

AU4269301

chr7:
108053302-108053302

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0488-003

chr7:
108022869-108022869

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

2-1425-004

chr7:
107981533-107981533

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0539-003

chr7:
107977873-107977873

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

4771021312387-C

chr7:
107799768-107799768

A

G

intronic

De novo

-

Fu2022 E

NRCAM

2-1160-003

chr7:
108006487-108006487

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRCAM

3-0307-000

chr7:
107802650-107802650

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0446-003

chr7:
107933146-107933146

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0595-004

chr7:
107939583-107939583

A

AAAG

intronic

De novo

-

Yuen2017 G

NRCAM

1-0261-004

chr7:
108051044-108051044

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRCAM

1-0395-004

chr7:
107939595-107939595

A

AG

intronic

De novo

-

Yuen2017 G

NRCAM

Cukier2014:17342

chr7:
107822355-107822355

G

A

exonic

Unknown

nonsynonymous SNV

NM_001037132
NM_005010
NM_001193583
NM_001193584
NM_001193582

c.C2557T
c.C2509T
c.C2500T
c.C2500T
c.C2557T

p.R853C
p.R837C
p.R834C
p.R834C
p.R853C

14.44

2.0E-4

Cukier2014 E

NRCAM

AU059903

chr7:
108084421-108084436

TAGAGAGAGAGAGAGA

TAGAGAGAGAGAGA

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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