Variant Results

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Results for "GRIA4"

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

GRIA4

AU3885304

chr11:
105672669-105672669

A

T

intronic

De novo

-

-

Yuen2017 G

GRIA4

1-0381-003

chr11:
105650768-105650768

T

C

intronic

De novo

-

-

Yuen2017 G

GRIA4

1-0466-003

chr11:
105501720-105501720

A

G

intronic

De novo

-

-

Yuen2017 G

GRIA4

AU1940304

chr11:
105848129-105848129

G

A

intronic

De novo

-

-

Yuen2017 G

GRIA4

1-0862-003

chr11:
105487294-105487294

T

G

intronic

De novo

-

-

Yuen2017 G

GRIA4

2-1322-004

chr11:
105796068-105796068

A

G

intronic

De novo

-

-

Yuen2017 G

GRIA4

1-0354-003

chr11:
105542458-105542458

A

ATATAT

intronic

De novo

-

-

Yuen2017 G

GRIA4

2-1318-004

chr11:
105500491-105500491

C

G

intronic

De novo

-

-

Yuen2017 G

GRIA4

AU3858302

chr11:
105700247-105700247

T

G

intronic

De novo

-

-

Yuen2017 G

GRIA4

AU1668302

chr11:
105827678-105827678

G

A

intronic

De novo

-

-

Yuen2017 G

GRIA4

AU3937301

chr11:
105613085-105613085

C

A

intronic

De novo

-

-

Yuen2017 G

GRIA4

AU3937301

chr11:
105613684-105613684

G

C

intronic

De novo

-

-

Yuen2017 G

GRIA4

Krgovic2022:045232

chr11:
105732889-105732889

T

G

exonic

Unknown

nonsynonymous SNV

NM_001112812
NM_000829
NM_001077243
NM_001077244

c.T627G
c.T627G
c.T627G
c.T627G

p.F209L
p.F209L
p.F209L
p.F209L

16.51

-

Krgovic2022 E

GRIA4

2-1619-003

chr11:
105615185-105615185

C

T

intronic

De novo

-

-

Yuen2017 G

GRIA4

Krgovic2022:046940

chr11:
105775933-105775933

A

C

exonic

Unknown

nonsynonymous SNV

NM_001112812
NM_000829
NM_001077243
NM_001077244

c.A1064C
c.A1064C
c.A1064C
c.A1064C

p.Q355P
p.Q355P
p.Q355P
p.Q355P

24.7

Krgovic2022 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
Curation notes	View
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