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Results for "GRIA1"

Variant Events: 30

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
GRIA1     1-0736-003chr5:
153356859-153356859		GAintergenicDe novo--Yuen2017 G
GRIA1     PN400575chr5:
153065849-153065849		CTexonicUnknownnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.C854T
c.C1094T
c.C1094T
c.C1124T
c.C1124T
c.C887T
c.C809T		p.T285M
p.T365M
p.T365M
p.T375M
p.T375M
p.T296M
p.T270M		25.18.245E-6Leblond2019 E
GRIA1     2-1696-003chr5:
153340507-153340507		CTintergenicDe novo--Yuen2017 G
GRIA1     AU3874303chr5:
153233409-153233415		CTTGTTTCTTintergenicDe novo--Yuen2017 G
GRIA1     AU4410302chr5:
152873429-152873429		GAintronicDe novo--Yuen2017 G
GRIA1     iHART2007chr5:
153026596-153026596		CTexonicDe novononsynonymous SNVNM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.C329T
c.C329T
c.C359T
c.C359T
c.C122T
c.C44T		p.T110M
p.T110M
p.T120M
p.T120M
p.T41M
p.T15M		25.7-Ruzzo2019 G
GRIA1     5-0041-003chr5:
153046808-153046808		GAintronicDe novo--Yuen2017 G
GRIA1     2-1242-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
GRIA1     SP0017629chr5:
153144053-153144053		CGexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.C1643G
c.C1883G
c.C1883G
c.C1913G
c.C1913G
c.C1676G
c.C1598G		p.S548C
p.S628C
p.S628C
p.S638C
p.S638C
p.S559C
p.S533C		25.0-Antaki2022 GE
Fu2022 E
GRIA1     PN400248chr5:
153065849-153065849		CTexonicUnknownnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.C854T
c.C1094T
c.C1094T
c.C1124T
c.C1124T
c.C887T
c.C809T		p.T285M
p.T365M
p.T365M
p.T375M
p.T375M
p.T296M
p.T270M		25.18.245E-6Leblond2019 E
GRIA1     Viggiano2022:22.4chr5:
153078545-153078545		GAexonicPaternalnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A		p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H		20.83.299E-5Viggiano2022 GT
GRIA1     162199chr5:
153175079-153175079		GAexonicDe novononsynonymous SNVNM_001114183
NM_001258022
NM_001258020		c.G2314A
c.G2344A
c.G2029A		p.V772I
p.V782I
p.V677I		14.053.341E-5Fu2022 E
GRIA1     2-1644-003chr5:
153146708-153146708		GGAintronicDe novo--Yuen2017 G
GRIA1     AU072504chr5:
152982604-152982604		GAintronicDe novo--Yuen2017 G
GRIA1     13951.p1chr5:
153030052-153030052		GAexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G383A
c.G623A
c.G623A
c.G653A
c.G653A
c.G416A
c.G338A		p.R128H
p.R208H
p.R208H
p.R218H
p.R218H
p.R139H
p.R113H		29.89.108E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
GRIA1     1-0059-003chr5:
153360566-153360566		CTintergenicDe novo--Yuen2017 G
GRIA1     Krgovic2022:045124chr5:
153085300-153085300		GAexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1256A
c.G1496A
c.G1496A
c.G1526A
c.G1526A
c.G1289A
c.G1211A		p.R419Q
p.R499Q
p.R499Q
p.R509Q
p.R509Q
p.R430Q
p.R404Q		22.0-Krgovic2022 E
GRIA1     13951_p1chr5:
153030052-153030052		GAexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G383A
c.G623A
c.G623A
c.G653A
c.G653A
c.G416A
c.G338A		p.R128H
p.R208H
p.R208H
p.R218H
p.R218H
p.R139H
p.R113H		29.89.108E-5Fu2022 E
GRIA1     Viggiano2022:22.3chr5:
153078545-153078545		GAexonicPaternalnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A		p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H		20.83.299E-5Viggiano2022 GT
GRIA1     1-0148-005chr5:
153147013-153147013		CTintronicDe novo--Yuen2017 G
GRIA1     2-1730-003chr5:
153348350-153348350		CTintergenicDe novo--Yuen2017 G
GRIA1     DEASD_0029_001chr5:
153144076-153144076		GAexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1666A
c.G1906A
c.G1906A
c.G1936A
c.G1936A
c.G1699A
c.G1621A		p.A556T
p.A636T
p.A636T
p.A646T
p.A646T
p.A567T
p.A541T		34.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
GRIA1     1-0995-003chr5:
152882427-152882427		AGintronicDe novo--Yuen2017 G
GRIA1     1-0224-004chr5:
153095672-153095672		TGintronicDe novo--Yuen2017 G
GRIA1     AU3900301chr5:
153187480-153187480		CTintronicDe novo--Yuen2017 G
GRIA1     1-0413-003chr5:
152963333-152963333		CAintronicDe novo--Yuen2016 G
Yuen2017 G
GRIA1     2-1195-003chr5:
153350649-153350649		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIA1     SP0077668chr5:
153026413-153026413		TCintronicDe novo--Fu2022 E
GRIA1     2-1549-003chr5:
153333723-153333723		AGintergenicDe novo--Yuen2017 G
GRIA1     1-0522-003chr5:
153226287-153226287		CTintergenicDe novo--Yuen2016 G
Yuen2017 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 notesView
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