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Results for "UGGT1"

Variant Events: 16

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
UGGT1     1-0382-003chr2:
128928225-128928225
TGintronicDe novo--Yuen2017 G
UGGT1     AU4168306chr2:
128898416-128898416
TCintronicDe novo--Yuen2017 G
UGGT1     2-0309-005chr2:
128904364-128904364
CGintronicDe novo--Yuen2017 G
UGGT1     3-0209-000chr2:
128877625-128877625
AGintronicDe novo--Yuen2017 G
UGGT1     1-0582-003chr2:
128992100-128992100
GCintergenicDe novo--Yuen2017 G
UGGT1     13274.p1chr2:
128938561-128938561
GAexonicDe novononsynonymous SNVNM_020120c.G3998Ap.R1333H22.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
UGGT1     AU038203chr2:
129018535-129018535
TAintergenicDe novo--Yuen2017 G
UGGT1     1-0479-006chr2:
128853050-128853050
CTintronicDe novo--Yuen2017 G
UGGT1     7-0192-003chr2:
128992026-128992026
TCintergenicDe novo--Yuen2017 G
UGGT1     1-0104-004chr2:
128874140-128874140
GAintronicDe novo--Yuen2017 G
UGGT1     DEASD_0088_001chr2:
128917217-128917220
TTCATexonicDe novononframeshift deletionNM_020120c.2486_2488delp.829_830del--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
UGGT1     2-0309-004chr2:
128923777-128923777
TAintronicDe novo--Yuen2017 G
UGGT1     1-0936-003chr2:
128927085-128927085
GAintronicDe novo--Yuen2017 G
UGGT1     2-1508-003chr2:
128914690-128914690
AGintronicDe novo--Yuen2017 G
UGGT1     2-1734-003chr2:
128952848-128952848
TGUTR3De novo--Yuen2017 G
UGGT1     Lim2017:6263chr2:
128938561-128938561
GAexonicDe novononsynonymous SNVNM_020120c.G3998Ap.R1333H22.0-Lim2017 E
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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