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Results for "AKAP9"

Variant Events: 18

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
AKAP9     2-0286-003chr7:
91584142-91584147
CACTTTCintronicDe novo--Yuen2017 G
AKAP9     11497.p1chr7:
91671478-91671478
GAexonicDe novononsynonymous SNVNM_005751
NM_147185
c.G5036A
c.G5036A
p.R1679H
p.R1679H
14.492.477E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
AKAP9     14474.p1chr7:
91726153-91726153
CTexonicDe novostopgainNM_005751
NM_147185
c.C9880T
c.C9856T
p.R3294X
p.R3286X
52.01.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
AKAP9     MT_160chr7:
91630490-91630490
AGexonicMaternalnonsynonymous SNVNM_005751
NM_147185
c.A1259G
c.A1259G
p.Q420R
p.Q420R
8.8683.334E-5Toma2013 E
AKAP9     3-0216-000chr7:
91606596-91606596
CTintronicDe novo--Yuen2017 G
AKAP9     AU4212303chr7:
91600572-91600572
GAintronicDe novo--Yuen2017 G
AKAP9     1-0669-003chr7:
91693969-91693969
AGintronicDe novo--Yuen2017 G
AKAP9     iHART3184chr7:
91709008-91709012
CAAATCexonicPaternalframeshift deletionNM_005751
NM_147185
c.7562_7565del
c.7538_7541del
p.Q2521fs
p.Q2513fs
--Ruzzo2019 G
AKAP9     iHART3116chr7:
91643604-91643604
CTexonicDe novostopgainNM_005751
NM_147185
c.C3574T
c.C3574T
p.Q1192X
p.Q1192X
42.0-Ruzzo2019 G
AKAP9     1-0965-003chr7:
91719910-91719910
TAintronicDe novo--Yuen2017 G
AKAP9     SSC01991chr7:
91671478-91671478
GAexonicDe novononsynonymous SNVNM_005751
NM_147185
c.G5036A
c.G5036A
p.R1679H
p.R1679H
14.492.477E-5Lim2017 E
AKAP9     1-0985-003chr7:
91595960-91595962
TAATAintronicDe novo--Yuen2017 G
AKAP9     1-0171-005chr7:
91624399-91624399
TCintronicDe novo--Yuen2017 G
AKAP9     AU003406chr7:
91670183-91670183
AGexonicDe novononsynonymous SNVNM_005751
NM_147185
c.A4888G
c.A4888G
p.I1630V
p.I1630V
14.91-Yuen2017 G
AKAP9     NDAR_INVBV470GWQ_wes1chr7:
91691610-91691610
TAexonicDe novononsynonymous SNVNM_005751
NM_147185
c.T5787A
c.T5787A
p.D1929E
p.D1929E
16.05-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
AKAP9     1-0253-005chr7:
91732584-91732584
GAintronicDe novo--Yuen2017 G
AKAP9     7-0166-003chr7:
91709401-91709401
GAexonicDe novononsynonymous SNVNM_005751
NM_147185
c.G7954A
c.G7930A
p.G2652S
p.G2644S
1.7-Yuen2017 G
AKAP9     HI0085chr7:
91603283-91603283
GAsplicingDe novosplicing15.14-Satterstrom2020 E
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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