Variant Results

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Results for "GRIA3"

Variant Events: 18

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

GRIA3

AU4122301

chrX:
122681563-122681574

AAGGAGAAGGAG

AAGGAGAAGGAGGAGAAGGAG

intergenic

De novo

-

-

Yuen2017 G

GRIA3

2-0270-003

chrX:
122691477-122691480

CCCT

C

intergenic

De novo

-

-

Yuen2017 G

GRIA3

2-1279-003

chrX:
122732772-122732791

CAGAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGAGA

intergenic

De novo

-

-

Yuen2017 G

GRIA3

AU3777302

chrX:
122349841-122349841

G

A

intronic

De novo

-

-

Yuen2017 G

GRIA3

AU4027306

chrX:
122590713-122590713

C

T

intronic

De novo

-

-

Yuen2017 G

GRIA3

2-1721-003

chrX:
122712954-122712961

GAAAAAAA

GAAAAAA

intergenic

De novo

-

-

Yuen2017 G

GRIA3

Hu2022:50

chrX:
122318409-122318409

G

A

exonic

Unknown

nonsynonymous SNV

NM_000828
NM_001256743
NM_007325

c.G22A
c.G22A
c.G22A

p.G8R
p.G8R
p.G8R

13.32

-

Hu2022 T

GRIA3

AU1987304

chrX:
122520442-122520442

G

A

intronic

De novo

-

-

Yuen2017 G

GRIA3

UK25363

chrX:
122460038-122460038

G

C

exonic

Unknown

nonsynonymous SNV

NM_000828
NM_007325

c.G670C
c.G670C

p.E224Q
p.E224Q

16.07

-

D’Gama2015 T

GRIA3

AU3122301

chrX:
122597519-122597534

GAAAGAAAGAAAGAAA

GA

intronic

De novo

-

-

Yuen2017 G

GRIA3

Hu2022:67

chrX:
122551611-122551611

G

C

exonic

Unknown

nonsynonymous SNV

NM_000828
NM_007325

c.G1859C
c.G1859C

p.G620A
p.G620A

22.5

-

Hu2022 T

GRIA3

AU4054302

chrX:
122549880-122549884

GCCTC

GCCTCCTC

intronic

De novo

-

-

Yuen2017 G

GRIA3

5-0065-003

chrX:
122345724-122345724

C

G

intronic

De novo

-

-

Yuen2017 G

GRIA3

5-0087-003

chrX:
122494704-122494715

TCTCACACACAC

TC

intronic

De novo

-

-

Yuen2017 G

GRIA3

2-0142-003

chrX:
122508503-122508503

C

CTGTT

intronic

De novo

-

-

Yuen2017 G

GRIA3

AU3680301

chrX:
122494704-122494709

TCTCAC

TC

intronic

De novo

-

-

Yuen2017 G

GRIA3

Mahjani2021:76

chrX:
122561908-122561908

T

C

exonic

nonsynonymous SNV

NM_000828
NM_007325

c.T1994C
c.T1994C

p.I665T
p.I665T

21.9

-

Mahjani2021 E

GRIA3

2-1383-003

chrX:
122664905-122664906

AT

A

intergenic

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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