or
or
Exact

Results for "MKL2"

Variant Events: 21

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     2-0036-003chr16:
14180628-14180628
GTintronicDe novo--Yuen2016 G
MKL2     AU4145303chr16:
14221788-14221788
TAintronicDe novo--Yuen2017 G
MKL2     08C74799chr16:
14310975-14310975
TGintronicDe novo--Satterstrom2020 E
MKL2     2-1314-003chr16:
14233824-14233824
CTintronicDe novo--Yuen2016 G
MKL2     7-0141-003chr16:
14358633-14358633
TAUTR3De novo--Yuen2017 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     1-0279-004chr16:
14292999-14292999
TCintronicDe novo--Yuen2017 G
MKL2     10C107875chr16:
14334157-14334157
CTexonicDe novononsynonymous SNVNM_001308142
NM_014048
c.C895T
c.C895T
p.R299W
p.R299W
19.451.659E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MKL2     1-0736-003chr16:
14246482-14246482
AGintronicDe novo--Yuen2017 G
MKL2     2-1518-003chr16:
14290375-14290375
AGintronicDe novo--Yuen2017 G
MKL2     7-0119-003chr16:
14306921-14306921
TCintronicDe novo--Yuen2017 G
MKL2     13942.p1chr16:
14381116-14381116
GTintergenicDe novo--Turner2016 G
MKL2     AU1860302chr16:
14322706-14322706
AGintronicDe novo--Yuen2017 G
MKL2     2-0016-003chr16:
14180628-14180628
GTintronicDe novo--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     12449.p1chr16:
14238925-14238925
TCintronicDe novo--Turner2016 G
MKL2     AU4242302chr16:
14378009-14378009
AGintergenicDe novo--Yuen2017 G
MKL2     AU4079301chr16:
14165378-14165378
ACintronicDe novo--Yuen2017 G
MKL2     2-1431-003chr16:
14358677-14358677
GAUTR3De novo--Yuen2016 G
MKL2     1-0009-004chr16:
14232054-14232054
TCintronicDe novo--Yuen2017 G
MKL2     AU3728301chr16:
14207354-14207354
CTintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More