Variant Results

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or

Results for "GAS2"

Variant Events: 15

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

GAS2

1-0454-003

chr11:
22830584-22830584

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GAS2

2-1521-003

chr11:
22739804-22739818

CATATATATATATAT

CATATATATATAT

intronic

De novo

-

-

Yuen2017 G

GAS2

1-0402-003

chr11:
22738504-22738504

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS2

AU4069302

chr11:
22700027-22700027

A

G

intronic

De novo

-

-

Yuen2017 G

GAS2

2-0273-003

chr11:
22826888-22826888

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS2

1-0906-003

chr11:
22691499-22691499

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS2

AU3646301

chr11:
22715451-22715451

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS2

Codina-Sola2015:ASD_8

chr11:
22747894-22747894

T

G

exonic

Maternal

nonsynonymous SNV

NM_005256
NM_001143830
NM_177553

c.T324G
c.T324G
c.T324G

p.F108L
p.F108L
p.F108L

13.37

-

Codina-Sola2015 E

GAS2

AU2817301

chr11:
22792922-22792922

C

T

intronic

De novo

-

-

Trost2022 G

GAS2

2-1455-003

chr11:
22727435-22727435

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GAS2

AU3703302

chr11:
22772952-22772952

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS2

1-0649-003

chr11:
22733572-22733573

TC

T

intronic

De novo

-

-

Trost2022 G

GAS2

AGG0019

chr11:
22770828-22770828

T

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

GAS2

MSSNG00399-003

chr11:
22775797-22775797

A

G

intronic

De novo

-

-

Trost2022 G

GAS2

SP0199641

chr11:
22707216-22707216

A

G

exonic

De novo

nonsynonymous SNV

NM_005256
NM_001143830
NM_177553

c.A148G
c.A148G
c.A148G

p.K50E
p.K50E
p.K50E

4.859

-

Trost2022 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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