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Results for "GPAT3"

Variant Events: 27

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
GPAT3     2-0045-003chr4:
84597956-84597956
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
GPAT3     12175.p1chr4:
84552272-84552272
ACintergenicDe novo--Turner2016 G
GPAT3     AU030703chr4:
84638252-84638252
CTintergenicDe novo--Yuen2017 G
GPAT3     MSSNG00421-008chr4:
84494893-84494893
ACintronicDe novo--Trost2022 G
GPAT3     REACH000097chr4:
84520227-84520227
GCintronicDe novo--Trost2022 G
GPAT3     AU3905301chr4:
84843318-84843318
TCintergenicDe novo--Yuen2017 G
GPAT3     1-0625-003chr4:
84533587-84533587
GAintergenicDe novo--Yuen2017 G
GPAT3     AU3724302chr4:
84870989-84870989
GCintergenicDe novo--Yuen2017 G
GPAT3     iHART2045chr4:
84502891-84502892
AGAexonicMaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.386delG
c.386delG
c.386delG
p.R129fs
p.R129fs
p.R129fs
--Ruzzo2019 G
GPAT3     2-0012-004chr4:
84613566-84613566
CAintergenicDe novo--Yuen2017 G
GPAT3     iHART2043chr4:
84502891-84502892
AGAexonicMaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.386delG
c.386delG
c.386delG
p.R129fs
p.R129fs
p.R129fs
--Ruzzo2019 G
GPAT3     1-0303-003chr4:
84733406-84733406
CGintergenicDe novo--Yuen2017 G
GPAT3     1-0214-003chr4:
84739158-84739158
GTintergenicDe novo--Yuen2017 G
GPAT3     mAGRE6047chr4:
84525882-84525883
TATexonicPaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.1268delA
c.1268delA
c.1268delA
p.Y423fs
p.Y423fs
p.Y423fs
-8.291E-5Cirnigliaro2023 G
GPAT3     mAGRE4151chr4:
84519296-84519298
CTGCexonicPaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.1090_1091del
c.1090_1091del
c.1090_1091del
p.C364fs
p.C364fs
p.C364fs
--Cirnigliaro2023 G
GPAT3     mAGRE2045chr4:
84502891-84502892
AGAexonicMaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.386delG
c.386delG
c.386delG
p.R129fs
p.R129fs
p.R129fs
--Cirnigliaro2023 G
GPAT3     mAGRE2043chr4:
84502891-84502892
AGAexonicMaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.386delG
c.386delG
c.386delG
p.R129fs
p.R129fs
p.R129fs
--Cirnigliaro2023 G
GPAT3     AU3807302chr4:
84502891-84502892
AGAexonicPaternalframeshift deletionNM_032717
NM_001256421
NM_001256422
c.386delG
c.386delG
c.386delG
p.R129fs
p.R129fs
p.R129fs
--Cirnigliaro2023 G
GPAT3     AU2569301chr4:
84668554-84668554
TCintergenicDe novo--Yuen2017 G
GPAT3     AU3888302chr4:
84496675-84496675
CTintronicDe novo--Trost2022 G
Yuen2017 G
GPAT3     AU3787303chr4:
84502765-84502765
CTexonicMaternalstopgainNM_032717
NM_001256421
NM_001256422
c.C259T
c.C259T
c.C259T
p.R87X
p.R87X
p.R87X
37.03.0E-4Cirnigliaro2023 G
GPAT3     2-1508-003chr4:
84500425-84500425
CCTintronicDe novo--Yuen2017 G
GPAT3     2-0144-004chr4:
84559532-84559534
CAGCintergenicDe novo--Yuen2017 G
GPAT3     AU4264302chr4:
84841747-84841747
TGintergenicDe novo--Yuen2017 G
GPAT3     3-0647-000chr4:
84474736-84474736
GAintronicDe novo--Trost2022 G
GPAT3     2-0018-004chr4:
84525052-84525052
AGintronicDe novo--Trost2022 G
Yuen2017 G
GPAT3     1-0413-003chr4:
84692565-84692565
GAintergenicDe novo--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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