Variant Results

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Results for "SCTR"

Variant Events: 14

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

SCTR

mAGRE4134

chr2:
120197798-120197798

C

T

exonic

Maternal

stopgain

NM_002980

c.G1218A

p.W406X

38.0

-

Cirnigliaro2023 G

SCTR

2-1408-004

chr2:
120295606-120295606

T

C

intergenic

De novo

-

-

Yuen2017 G

SCTR

2-1339-003

chr2:
120264871-120264871

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SCTR

2-1506-003

chr2:
120275784-120275784

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SCTR

AU055004

chr2:
120272315-120272315

G

A

intronic

De novo

-

-

Yuen2017 G

SCTR

MSSNG00106-003

chr2:
120219464-120219467

GAGA

G

exonic

De novo

nonframeshift deletion

NM_002980

c.746_748del

p.249_250del

-

-

Trost2022 G
Zhou2022 GE

SCTR

Ohashi2021:ASD-061

chr2:
120209612-120209612

G

A

exonic

nonsynonymous SNV

NM_002980

c.C895T

p.R299C

21.6

Ohashi2021 ET

SCTR

AU4410302

chr2:
120275467-120275467

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SCTR

MSSNG00437-003

chr2:
120217732-120217732

G

A

intronic

De novo

-

-

Trost2022 G

SCTR

5-0101-003

chr2:
120221630-120221630

C

T

intronic

De novo

-

-

Trost2022 G

SCTR

MSSNG00023-004

chr2:
120207626-120207626

A

G

intronic

De novo

-

-

Trost2022 G

SCTR

MSSNG00069-003

chr2:
120209083-120209083

C

T

intronic

De novo

-

-

Trost2022 G

SCTR

1-0139-003

chr2:
120203170-120203170

G

A

intronic

De novo

-

-

Yuen2017 G

SCTR

REACH000228

chr2:
120200301-120200301

A

T

intronic

De novo

-

-

Trost2022 G

Source Variant Information

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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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