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Results for "ARHGEF28"

Variant Events: 34

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
ARHGEF28     2-1485-003chr5:
73552683-73552683
ACintergenicDe novo--Yuen2017 G
ARHGEF28     AU043804chr5:
73008444-73008444
TGintronicDe novo--Yuen2017 G
ARHGEF28     3-0456-000Bchr5:
73144882-73144882
CTexonicDe novononsynonymous SNVNM_001244364
NM_001080479
NM_001177693
c.C778T
c.C1717T
c.C1717T
p.R260C
p.R573C
p.R573C
19.256.0E-4Yuen2017 G
ARHGEF28     AU056005chr5:
73221709-73221709
CTintronicDe novo--Yuen2017 G
ARHGEF28     2-1112-003chr5:
73031975-73031975
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF28     3-0456-000chr5:
73144882-73144882
CTexonicDe novononsynonymous SNVNM_001244364
NM_001080479
NM_001177693
c.C778T
c.C1717T
c.C1717T
p.R260C
p.R573C
p.R573C
19.256.0E-4Yuen2016 G
Yuen2017 G
ARHGEF28     A5chr5:
73547277-73547277
CTintergenicDe novo--Wu2018 G
ARHGEF28     7-0077-003chr5:
73357104-73357104
TCintergenicDe novo--Yuen2017 G
ARHGEF28     7-0161-003chr5:
73594286-73594286
TGintergenicDe novo--Yuen2017 G
ARHGEF28     A15chr5:
73253179-73253179
GAintergenicDe novo--Wu2018 G
ARHGEF28     AU0540301chr5:
73453922-73453922
GAintergenicDe novo--Yuen2017 G
ARHGEF28     2-1485-004chr5:
73552683-73552683
ACintergenicDe novo--Yuen2017 G
ARHGEF28     7-0128-003chr5:
73483047-73483047
CTintergenicDe novo--Yuen2017 G
ARHGEF28     AU2433303chr5:
73141003-73141003
CTintronicDe novo--Yuen2017 G
ARHGEF28     1-0606-003chr5:
73048181-73048196
AACACACACACACACAAACACACACACACAintronicDe novo--Yuen2017 G
ARHGEF28     ASC_CA_158_Achr5:
73190355-73190355
GAexonicDe novononsynonymous SNVNM_001244364
NM_001080479
NM_001177693
c.G2857A
c.G3796A
c.G3796A
p.E953K
p.E1266K
p.E1266K
22.98.372E-6Satterstrom2020 E
ARHGEF28     2-1207-003chr5:
73459433-73459433
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF28     2-1529-003chr5:
73297767-73297767
CAintergenicDe novo--Yuen2017 G
ARHGEF28     AU4286302chr5:
73210513-73210513
CTintronicDe novo--Yuen2017 G
ARHGEF28     1-0459-004chr5:
73547601-73547601
ACintergenicDe novo--Yuen2017 G
ARHGEF28     1-0671-003chr5:
73280831-73280831
GAintergenicDe novo--Yuen2017 G
ARHGEF28     AU1223301chr5:
73420673-73420673
CTintergenicDe novo--Yuen2017 G
ARHGEF28     2-1426-003chr5:
73339663-73339665
ACCACintergenicDe novo--Yuen2017 G
ARHGEF28     5-0040-003chr5:
73303037-73303041
CTATTCintergenicDe novo--Yuen2017 G
ARHGEF28     AU045512chr5:
73389310-73389310
GAintergenicDe novo--Yuen2017 G
ARHGEF28     2-1128-003chr5:
72989801-72989801
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF28     AU073005chr5:
73455380-73455380
AGintergenicDe novo--Yuen2017 G
ARHGEF28     2-1355-003chr5:
73491327-73491327
TCintergenicDe novo--Yuen2017 G
ARHGEF28     AU3720302chr5:
73287336-73287336
CGintergenicDe novo--Yuen2017 G
ARHGEF28     1-0871-003chr5:
72932550-72932550
AGintronicDe novo--Yuen2017 G
ARHGEF28     AU4012302chr5:
73395684-73395684
GAintergenicDe novo--Yuen2017 G
ARHGEF28     Cukier2014:7663chr5:
73153552-73153552
GAexonicUnknownnonsynonymous SNVNM_001244364
NM_001080479
NM_001177693
c.G923A
c.G1862A
c.G1862A
p.R308Q
p.R621Q
p.R621Q
34.00.0079Cukier2014 E
ARHGEF28     AU3801301chr5:
73184449-73184449
CTintronicDe novo--Yuen2017 G
ARHGEF28     1-0627-006chr5:
73594491-73594491
TCintergenicDe 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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