Variant Results

or

or

Results for "NGF"

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

NGF

1-1210-003

chr1:
115843518-115843518

T

C

intronic

De novo

-

-

Trost2022 G

NGF

AU061104

chr1:
116062719-116062723

TAATG

TAATGAATG

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1753-003

chr1:
115874155-115874155

A

G

intronic

De novo

-

-

Trost2022 G

NGF

2-1733-003

chr1:
115866456-115866456

A

G

intronic

De novo

-

-

Trost2022 G

NGF

200675489_1082035027

chr1:
115828978-115828978

T

G

exonic

De novo

nonsynonymous SNV

NM_002506

c.A439C

p.T147P

18.35

-

Fu2022 E

NGF

2-0202-004

chr1:
115944078-115944079

TG

T

intergenic

De novo

-

-

Yuen2017 G

NGF

AU4054301

chr1:
116062039-116062039

T

C

intergenic

De novo

-

-

Yuen2017 G

NGF

AU054304

chr1:
115885584-115885584

A

G

intergenic

De novo

-

-

Yuen2017 G

NGF

2-0028-003

chr1:
116010871-116010871

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NGF

Al-Mubarak2017:ASD-43

chr1:
115829056-115829056

G

A

exonic

Unknown

nonsynonymous SNV

NM_002506

c.C361T

p.R121W

16.33

-

Al-Mubarak2017 E

NGF

5-0123-003

chr1:
115953313-115953313

C

T

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1511-003

chr1:
116046137-116046137

G

A

intergenic

De novo

-

-

Yuen2017 G

NGF

5-0109-003

chr1:
116161278-116161278

G

A

intergenic

De novo

-

-

Yuen2017 G

NGF

1-0339-004

chr1:
115907604-115907604

G

A

intergenic

De novo

-

-

Yuen2017 G

NGF

1-0294-003

chr1:
116014294-116014294

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NGF

AU047904

chr1:
115844686-115844686

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NGF

2-1314-003

chr1:
116152147-116152147

C

A

intergenic

De novo

-

-

Yuen2016 G

NGF

5-0041-003

chr1:
115961793-115961793

C

T

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1364-003

chr1:
115944204-115944207

GCTC

GC

intergenic

De novo

-

-

Yuen2017 G

NGF

1-0226-005

chr1:
115934392-115934392

T

C

intergenic

De novo

-

-

Yuen2017 G

NGF

1-0863-003

chr1:
116079951-116079951

A

C

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1508-004

chr1:
116081286-116081286

A

C

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1617-003

chr1:
115844665-115844665

G

A

intronic

De novo

-

-

Yuen2017 G

NGF

AU031203

chr1:
116135615-116135615

G

T

intergenic

De novo

-

-

Yuen2017 G

NGF

AU4188302

chr1:
115827860-115827860

G

A

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

NGF

1-0186-004

chr1:
116133756-116133756

T

C

intergenic

De novo

-

-

Yuen2017 G

NGF

2-1561-003

chr1:
116100700-116100700

C

T

intergenic

De novo

-

-

Yuen2017 G

NGF

1-0279-004

chr1:
116036998-116036998

G

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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