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Results for "ARHGAP15"

Variant Events: 41

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
ARHGAP15     7-0012-003chr2:
144206206-144206206
GAintronicDe novo--Yuen2017 G
ARHGAP15     2-1210-003chr2:
144519816-144519816
TCintronicDe novo--Yuen2017 G
ARHGAP15     2-1173-003chr2:
144424350-144424357
AAAGAAGAAAAGAintronicDe novo--Yuen2017 G
ARHGAP15     2-1114-003chr2:
144405900-144405900
ATintronicDe novo--Yuen2017 G
ARHGAP15     AU000704chr2:
143970811-143970811
GAintronicDe novo--Yuen2017 G
ARHGAP15     AU3730301chr2:
144423865-144423865
CTintronicDe novo--Yuen2017 G
ARHGAP15     2-1220-003chr2:
144492927-144492927
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP15     2-0296-003chr2:
144043395-144043395
TAintronicDe novo--Yuen2017 G
ARHGAP15     AU3888302chr2:
144412652-144412652
GAintronicDe novo--Yuen2017 G
ARHGAP15     2-0098-003chr2:
144618686-144618686
CTintergenicDe novo--Yuen2017 G
ARHGAP15     7-0197-003chr2:
144018582-144018582
CAintronicDe novo--Yuen2017 G
ARHGAP15     2-0296-004chr2:
144630394-144630394
GTintergenicDe novo--Yuen2017 G
ARHGAP15     5-0017-003chr2:
144649867-144649867
GTintergenicDe novo--Yuen2017 G
ARHGAP15     1-0414-005chr2:
144629247-144629247
TCintergenicDe novo--Yuen2017 G
ARHGAP15     5-0111-003chr2:
144071941-144071941
TGintronicDe novo--Yuen2017 G
ARHGAP15     7-0058-003chr2:
144616558-144616561
GATTGintergenicDe novo--Yuen2017 G
ARHGAP15     2-1357-003chr2:
144655856-144655861
AGATGTAintergenicDe novo--Yuen2017 G
ARHGAP15     1-0004-003chr2:
144501564-144501568
ATTGTAintronicDe novo--Yuen2017 G
ARHGAP15     2-0307-003chr2:
144352425-144352425
CGintronicDe novo--Yuen2017 G
ARHGAP15     2-1379-003chr2:
144627335-144627335
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP15     2-1291-003chr2:
144013335-144013335
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP15     13942.p1chr2:
144411480-144411480
TCintronicDe novo--Turner2016 G
ARHGAP15     12175.p1chr2:
144649944-144649944
AGintergenicDe novo--Turner2016 G
ARHGAP15     1-0971-003chr2:
144564879-144564879
CTintergenicDe novo--Yuen2017 G
ARHGAP15     63-343chr2:
144545126-144545126
TCintergenicDe novo--Michaelson2012 G
ARHGAP15     AU3937301chr2:
144464226-144464226
CTintronicDe novo--Yuen2017 G
ARHGAP15     2-1194-003chr2:
144244744-144244744
GAintronicDe novo--Yuen2017 G
ARHGAP15     1-0405-003chr2:
144262372-144262372
GTintronicDe novo--Yuen2017 G
ARHGAP15     1-0405-003chr2:
144261759-144261759
CTintronicDe novo--Yuen2017 G
ARHGAP15     2-1164-003chr2:
143952314-143952314
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP15     2-1381-003chr2:
144040723-144040723
CTintronicDe novo--Yuen2017 G
ARHGAP15     1-0257-003chr2:
144437100-144437100
CTintronicDe novo--Yuen2017 G
ARHGAP15     1-0269-005chr2:
144144667-144144667
GAintronicDe novo--Yuen2017 G
ARHGAP15     12817.p1chr2:
144008169-144008169
GAexonicDe novosynonymous SNVNM_018460c.G474Ap.Q158Q--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ARHGAP15     7-0001-003chr2:
143896936-143896936
GAintronicDe novo--Yuen2017 G
ARHGAP15     AU3905302chr2:
144249477-144249477
TCintronicDe novo--Yuen2017 G
ARHGAP15     1-0668-003chr2:
143993923-143993923
TCintronicDe novo--Yuen2017 G
ARHGAP15     7-0032-003chr2:
144414809-144414809
CGintronicDe novo--Yuen2017 G
ARHGAP15     2-1734-003chr2:
143973190-143973190
ATintronicDe novo--Yuen2017 G
ARHGAP15     3-0447-000chr2:
144449694-144449694
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP15     AU3617302chr2:
144617940-144617940
CTintergenicDe 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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