Variant Results

or

or

Results for "NMNAT3"

Variant Events: 22

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

NMNAT3

SSC08243

chr3:
139280174-139280174

T

C

exonic

De novo

nonsynonymous SNV

NM_001200047
NM_178177

c.A170G
c.A326G

p.N57S
p.N109S

13.51

-

Fu2022 E
Lim2017 E

NMNAT3

14642.p1

chr3:
139620138-139620138

C

T

intergenic

De novo

-

-

Turner2016 G

NMNAT3

1-0141-003

chr3:
139578003-139578003

C

G

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

1-0488-003

chr3:
139636411-139636411

T

C

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

AU4235303

chr3:
139332666-139332666

T

G

intronic

De novo

-

-

Yuen2017 G

NMNAT3

AU4356302

chr3:
139509002-139509002

A

G

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

AU2165301

chr3:
139363768-139363768

G

A

intronic

De novo

-

-

Yuen2017 G

NMNAT3

1-0051-005

chr3:
139544921-139544921

G

T

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

2-0043-003

chr3:
139523120-139523120

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NMNAT3

2-1442-003

chr3:
139542111-139542111

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NMNAT3

1-0512-003

chr3:
139606204-139606205

AC

A

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

AU4423303

chr3:
139565322-139565322

T

C

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

2-0132-004

chr3:
139316323-139316323

A

G

intronic

De novo

-

-

Yuen2017 G

NMNAT3

AU2123302

chr3:
139455643-139455655

TAAGGCTGTTGAA

TAAGGCTGTTGAAAAGGCTGTTGAA

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

13555.p1

chr3:
139280174-139280174

T

C

exonic

De novo

nonsynonymous SNV

NM_001200047
NM_178177

c.A170G
c.A326G

p.N57S
p.N109S

13.51

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

NMNAT3

AU3302302

chr3:
139493298-139493298

T

G

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

2975_17AU

chr3:
139297781-139297781

C

T

exonic

De novo

nonsynonymous SNV

NM_178177

c.G115A

p.D39N

11.79

-

Fu2022 E

NMNAT3

2-1629-003

chr3:
139433302-139433302

A

G

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

1-0514-003

chr3:
139368046-139368046

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NMNAT3

3-0134-000

chr3:
139620057-139620059

CCA

C

intergenic

De novo

-

-

Yuen2017 G

NMNAT3

5-0014-004

chr3:
139316578-139316578

G

A

intronic

De novo

-

-

Yuen2017 G

NMNAT3

AU070703

chr3:
139496929-139496929

C

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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