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Results for "ADGRG4"

Variant Events: 13

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
ADGRG4     AU3398301chrX:
135459346-135459356
TTTTTGTTGTTTTTintronicDe novo--Yuen2017 G
ADGRG4     MT_28chrX:
135431930-135431930
CAexonicMaternalnonsynonymous SNVNM_153834c.C6065Ap.T2022N17.26-Toma2013 E
ADGRG4     2-1497-003chrX:
135533203-135533210
CATATATACATATAintergenicDe novo--Yuen2017 G
ADGRG4     11028.p1chrX:
135429308-135429308
CTexonicDe novononsynonymous SNVNM_153834c.C3443Tp.P1148L9.085-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADGRG4     1-0656-003chrX:
135391215-135391215
CTintronicDe novo--Yuen2017 G
ADGRG4     A19chrX:
135494500-135494501
GTGexonicDe novoframeshift deletionNM_153834c.9013delTp.W3005fs-1.0E-4Wu2018 G
ADGRG4     SP0022770chrX:
135431671-135431671
GAexonicDe novononsynonymous SNVNM_153834c.G5806Ap.A1936T2.532-Feliciano2019 E
ADGRG4     AU3951301chrX:
135459346-135459356
TTTTTGTTGTTTTTintronicDe novo--Yuen2017 G
ADGRG4     AU3951302chrX:
135459346-135459356
TTTTTGTTGTTTTTintronicDe novo--Yuen2017 G
ADGRG4     1-0972-003chrX:
135555488-135555488
GTintergenicDe novo--Yuen2017 G
ADGRG4     AU2089301chrX:
135414167-135414168
TATintronicDe novo--Yuen2017 G
ADGRG4     AU3846303chrX:
135495065-135495065
TAintronicDe novo--Yuen2017 G
ADGRG4     2-1346-003chrX:
135533306-135533306
AGintergenicDe 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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