or
or
Exact

Results for "GFPT2"

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
GFPT2     06HI4858Achr5:
179745870-179745870
CTexonicDe novononsynonymous SNVNM_005110c.G881Ap.R294Q33.01.664E-5Satterstrom2020 E
GFPT2     13896.p1chr5:
179755381-179755381
CTintronicMosaic Pat.-8.332E-6Dou2017 E
GFPT2     2-0057-003chr5:
179857336-179857336
CGintergenicDe novo--Yuen2017 G
GFPT2     5-0077-004chr5:
179910445-179910445
AGintergenicDe novo--Yuen2017 G
GFPT2     7-0135-003chr5:
179917748-179917748
GAintergenicDe novo--Yuen2017 G
GFPT2     AU3911302chr5:
179850486-179850486
GCintergenicDe novo--Yuen2017 G
GFPT2     1-0568-003chr5:
179903439-179903439
CCTGTTTAAintergenicDe novo--Yuen2017 G
GFPT2     1-0252-003chr5:
179729280-179729280
CCCGTATCAAintronicDe novo--Yuen2017 G
GFPT2     1-0373-003chr5:
179893599-179893599
GTintergenicDe novo--Yuen2017 G
GFPT2     5-0148-003chr5:
179727858-179727858
GCUTR3De novo--Yuen2017 G
GFPT2     1-0862-003chr5:
179837448-179837448
ATintergenicDe novo--Yuen2017 G
GFPT2     2-1153-003chr5:
179787755-179787755
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GFPT2     AU3343301chr5:
179740146-179740146
CTintronicDe novo--Yuen2017 G
GFPT2     EGAN00001101277chr5:
179763467-179763467
TGintronicDe novo-2.0E-4Satterstrom2020 E
GFPT2     NDAR_INVHV043VE2_wes1chr5:
179763552-179763552
GAexonicDe novosynonymous SNVNM_005110c.C141Tp.H47H-6.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
GFPT2     AU005213chr5:
179894232-179894232
CTintergenicDe novo--Yuen2017 G
GFPT2     1-0092-004chr5:
179761658-179761658
TGintronicDe novo--Yuen2017 G
GFPT2     1-0305-004chr5:
179894914-179894914
GAintergenicDe 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 notesView
More