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Results for "MKL2"

Variant Events: 38

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
MKL2     AU4145303chr16:
14221788-14221788
TAintronicDe novo--Yuen2017 G
MKL2     08C74799chr16:
14310975-14310975
TGintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MKL2     2-1314-003chr16:
14233824-14233824
CTintronicDe novo--Yuen2016 G
MKL2     Li2017:16235chr16:
14340619-14340619
CTexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C1502T
c.C1502T
p.S501F
p.S501F
18.86-Li2017 T
MKL2     10C107875chr16:
14334157-14334157
CTexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C895T
c.C895T
p.R299W
p.R299W
19.451.659E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MKL2     2-1518-003chr16:
14290375-14290375
AGintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     MSSNG00022-003chr16:
14210282-14210282
CAintronicDe novo--Trost2022 G
MKL2     7-0419-003chr16:
14216269-14216269
CTintronicDe novo--Trost2022 G
MKL2     7-0119-003chr16:
14306921-14306921
TCintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     13942.p1chr16:
14381116-14381116
GTintergenicDe novo--Turner2016 G
MKL2     2-0016-003chr16:
14180628-14180628
GTintronicDe novo--Yuen2017 G
MKL2     12449.p1chr16:
14238925-14238925
TCintronicDe novo--Turner2016 G
MKL2     SP0200436chr16:
14341055-14341055
CGexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C1938G
c.C1938G
p.D646E
p.D646E
10.4-Trost2022 G
Zhou2022 GE
MKL2     REACH000514chr16:
14317631-14317631
GGAGAGAAintronicDe novo--Trost2022 G
MKL2     AU4242302chr16:
14378009-14378009
AGintergenicDe novo--Yuen2017 G
MKL2     SP0185636chr16:
14340618-14340618
TGexonicnonsynonymous SNVNM_001308142
NM_014048
c.T1501G
c.T1501G
p.S501A
p.S501A
13.83-Zhou2022 GE
MKL2     1-0172-005chr16:
14326171-14326171
CCAintronicDe novo--Trost2022 G
MKL2     3-0070-000chr16:
14275968-14275968
CGintronicDe novo--Trost2022 G
MKL2     REACH000544chr16:
14312601-14312601
AGintronicDe novo--Trost2022 G
MKL2     1-1122-003chr16:
14234984-14234984
CTintronicDe novo--Trost2022 G
MKL2     MT_181.4chr16:
14257440-14257440
GCintronicDe novo--Trost2022 G
MKL2     SP0153128chr16:
14334127-14334127
CTexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C865T
c.C865T
p.R289C
p.R289C
29.8-Trost2022 G
Zhou2022 GE
MKL2     2-1288-003chr16:
14217766-14217767
GTGintronicDe novo--Trost2022 G
MKL2     1-0009-004chr16:
14232054-14232054
TCintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     7-0328-003chr16:
14229855-14229855
CTintronicDe novo--Trost2022 G
MKL2     2-0036-003chr16:
14180628-14180628
GTintronicDe novo--Yuen2016 G
MKL2     AU2512301chr16:
14310975-14310975
TGintronic--Zhou2022 GE
MKL2     2-1809-003chr16:
14329356-14329356
CTintronicDe novo--Trost2022 G
MKL2     7-0141-003chr16:
14358633-14358633
TAUTR3De novo--Trost2022 G
Yuen2017 G
MKL2     REACH000431chr16:
14331763-14331763
GAintronicDe novo--Trost2022 G
MKL2     1-0279-004chr16:
14292999-14292999
TCintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     1-0736-003chr16:
14246482-14246482
AGintronicDe novo--Yuen2017 G
MKL2     SP0135020chr16:
14280861-14280861
TTGAGGintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
MKL2     AU1860302chr16:
14322706-14322706
AGintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     5093_childchr16:
14334157-14334157
CTexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C895T
c.C895T
p.R299W
p.R299W
19.451.659E-5Neale2012 E
MKL2     AU4079301chr16:
14165378-14165378
ACintronicDe novo--Trost2022 G
Yuen2017 G
MKL2     2-1431-003chr16:
14358677-14358677
GAUTR3De novo--Yuen2016 G
MKL2     AU3728301chr16:
14207354-14207354
CTintronicDe novo--Trost2022 G
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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