Variant Results

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Results for "IL16"

Variant Events: 11

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

IL16

2-0244-004

chr15:
81561323-81561323

G

A

intronic

De novo

-

-

Yuen2017 G

IL16

3-0065-000

chr15:
81581969-81581987

TTTGTTGTTGTTGTTGTTG

TTTGTTGTTGTTGTTG

intronic

De novo

-

-

Yuen2017 G

IL16

Codina-Sola2015:ASD_34

chr15:
81601104-81601104

C

T

exonic

Maternal

stopgain

NM_004513
NM_172217
NM_001172128

c.C1861T
c.C3964T
c.C3961T

p.Q621X
p.Q1322X
p.Q1321X

42.0

Codina-Sola2015 E

IL16

AU2100302

chr15:
81549046-81549046

G

A

intronic

De novo

-

-

Yuen2017 G

IL16

AU057503

chr15:
81592832-81592832

C

T

intronic

De novo

-

Yuen2017 G

IL16

562-06-107529

chr15:
81593836-81593836

G

T

exonic

De novo

nonsynonymous SNV

NM_004513
NM_172217
NM_001172128

c.G1198T
c.G3301T
c.G3301T

p.D400Y
p.D1101Y
p.D1101Y

16.74

-

Fu2022 E
Satterstrom2020 E

IL16

ASP014

chr15:
81561848-81561848

A

G

intronic

De novo

-

-

Satterstrom2020 E

IL16

SP0124305

chr15:
81571945-81571945

C

T

exonic

De novo

nonsynonymous SNV

NM_172217
NM_001172128

c.C911T
c.C911T

p.T304M
p.T304M

4.072

Fu2022 E

IL16

2-0208-004

chr15:
81507120-81507120

C

G

intronic

De novo

-

-

Yuen2017 G

IL16

SP0079670

chr15:
81489259-81489259

T

C

UTR5

De novo

-

-

Fu2022 E

IL16

SP0028357

chr15:
81552199-81552199

A

G

exonic

De novo

synonymous SNV

NM_172217
NM_001172128

c.A399G
c.A399G

p.Q133Q
p.Q133Q

-

-

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
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