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Results for "AKAP12"

Variant Events: 19

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
AKAP12     14015.p1chr6:
151578105-151578105
ATintronicDe novo--Turner2016 G
AKAP12     AU3907301chr6:
151607099-151607099
GTintronicDe novo--Yuen2017 G
AKAP12     14015.p1chr6:
151578108-151578108
TAintronicDe novo--Turner2016 G
AKAP12     14015.p1chr6:
151578102-151578102
TAintronicDe novo--Turner2016 G
AKAP12     AU066403chr6:
151667843-151667843
TCintronicDe novo--Yuen2017 G
AKAP12     2-1428-003chr6:
151658437-151658437
CTintronicDe novo--Yuen2016 G
Yuen2017 G
AKAP12     PN400266chr6:
151672537-151672537
CTexonicUnknownnonsynonymous SNVNM_144497
NM_005100
c.C2717T
c.C3011T
p.S906L
p.S1004L
28.41.65E-5Leblond2019 E
AKAP12     AU058105chr6:
151655055-151655055
GAintronicDe novo--Yuen2017 G
AKAP12     5-0110-003chr6:
151609382-151609382
GTintronicDe novo--Yuen2017 G
AKAP12     1-0450-003chr6:
151577657-151577657
AGintronicDe novo--Yuen2017 G
AKAP12     2-0319-004chr6:
151562225-151562225
AGintronicDe novo--Yuen2017 G
AKAP12     AU3729301chr6:
151683093-151683093
GAintergenicDe novo--Yuen2017 G
AKAP12     1-0358-003chr6:
151655896-151655896
AACAGGCGCintronicDe novo--Yuen2017 G
AKAP12     PN400104chr6:
151672537-151672537
CTexonicUnknownnonsynonymous SNVNM_144497
NM_005100
c.C2717T
c.C3011T
p.S906L
p.S1004L
28.41.65E-5Leblond2019 E
AKAP12     PN400277chr6:
151672537-151672537
CTexonicUnknownnonsynonymous SNVNM_144497
NM_005100
c.C2717T
c.C3011T
p.S906L
p.S1004L
28.41.65E-5Leblond2019 E
AKAP12     PN400523chr6:
151672537-151672537
CTexonicUnknownnonsynonymous SNVNM_144497
NM_005100
c.C2717T
c.C3011T
p.S906L
p.S1004L
28.41.65E-5Leblond2019 E
AKAP12     12378.p1chr6:
151670900-151670900
ACexonicDe novononsynonymous SNVNM_144497
NM_005100
c.A1080C
c.A1374C
p.E360D
p.E458D
15.5-Satterstrom2020 E
AKAP12     AU4237304chr6:
151671438-151671438
GAexonicDe novononsynonymous SNVNM_144497
NM_005100
c.G1618A
c.G1912A
p.V540I
p.V638I
14.5-Yuen2017 G
AKAP12     1-0384-003chr6:
151610723-151610723
AGintronicDe 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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