Variant Results

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Results for "TCAIM"

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

TCAIM

5-0095-003

chr3:
44465126-44465126

A

C

intergenic

De novo

-

-

Yuen2017 G

TCAIM

AU006804

chr3:
44387207-44387207

G

A

intronic

De novo

-

-

Yuen2017 G

TCAIM

1-0107-003

chr3:
44471257-44471257

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TCAIM

iHART2070

chr3:
44409116-44409116

G

A

exonic

Maternal

stopgain

NM_001282913
NM_001282914
NM_001282915
NM_173826

c.G488A
c.G56A
c.G56A
c.G488A

p.W163X
p.W19X
p.W19X
p.W163X

37.0

-

Ruzzo2019 G

TCAIM

iHART2072

chr3:
44409116-44409116

G

A

exonic

Maternal

stopgain

NM_001282913
NM_001282914
NM_001282915
NM_173826

c.G488A
c.G56A
c.G56A
c.G488A

p.W163X
p.W19X
p.W19X
p.W163X

37.0

-

Ruzzo2019 G

TCAIM

SP0053923

chr3:
44442660-44442660

C

T

intronic

De novo

-

-

Fu2022 E

TCAIM

Codina-Sola2015:ASD_27

chr3:
44441934-44441934

C

T

exonic

Maternal

stopgain

NM_001282913
NM_001282914
NM_001282915
NM_173826

c.C973T
c.C541T
c.C541T
c.C973T

p.Q325X
p.Q181X
p.Q181X
p.Q325X

39.0

-

Codina-Sola2015 E

TCAIM

2-1315-003

chr3:
44420085-44420085

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TCAIM

3-0439-000

chr3:
44382458-44382458

G

A

intronic

De novo

-

-

Yuen2016 G

TCAIM

2-1635-004

chr3:
44479990-44479990

G

A

intergenic

De novo

-

-

Yuen2017 G

TCAIM

5-0111-003

chr3:
44440900-44440900

A

G

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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