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Results for "KCNH7"

Variant Events: 64

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
KCNH7     1-0282-003chr2:
164239705-164239705
CTintergenicDe novo--Yuen2017 G
KCNH7     2-0022-003chr2:
164002895-164002895
GAintergenicDe novo--Yuen2017 G
KCNH7     AU3506302chr2:
164166081-164166081
CTintergenicDe novo--Yuen2017 G
KCNH7     AU076508chr2:
163270822-163270822
GAintronicDe novo--Yuen2017 G
KCNH7     7-0059-003chr2:
163512006-163512006
TCintronicDe novo--Yuen2017 G
KCNH7     A6chr2:
163585968-163585968
AGintronicDe novo--Wu2018 G
KCNH7     2-0215-003chr2:
163675667-163675667
AGintronicDe novo--Yuen2017 G
KCNH7     JASD_Fam0232chr2:
163241305-163241305
ACexonicDe novononsynonymous SNVNM_033272c.T2855Gp.I952R4.259-Takata2018 E
KCNH7     1-0173-004chr2:
163805000-163805000
GCintergenicDe novo--Yuen2017 G
KCNH7     2-1258-004chr2:
163841772-163841772
ACintergenicDe novo--Yuen2017 G
KCNH7     1-0357-003chr2:
163896819-163896819
AGintergenicDe novo--Yuen2017 G
KCNH7     AU3692302chr2:
163290171-163290171
CGintronicDe novo--Yuen2017 G
KCNH7     1-0214-003chr2:
163512415-163512415
TCintronicDe novo--Yuen2017 G
KCNH7     AU2123302chr2:
163579827-163579827
CTintronicDe novo--Yuen2017 G
KCNH7     2-1736-003chr2:
164238993-164238993
CTintergenicDe novo--Yuen2017 G
KCNH7     2-0022-005chr2:
163481996-163481996
GAintronicDe novo--Yuen2017 G
KCNH7     AU1308303chr2:
163448653-163448653
GTintronicDe novo--Yuen2017 G
KCNH7     1-0150-003chr2:
163561261-163561261
ACintronicDe novo--Yuen2017 G
KCNH7     1-0436-003chr2:
163475519-163475519
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KCNH7     2-1335-004chr2:
164438992-164438992
AGintergenicDe novo--Yuen2017 G
KCNH7     1-0332-003chr2:
163383003-163383003
GAintronicDe novo--Yuen2017 G
KCNH7     2-1246-003chr2:
163350911-163350911
CAintronicDe novo--Yuen2017 G
KCNH7     7-0175-003chr2:
164181457-164181457
CAintergenicDe novo--Yuen2017 G
KCNH7     AU1640302chr2:
163765115-163765115
TGintergenicDe novo--Yuen2017 G
KCNH7     2-0319-004chr2:
163855203-163855203
CAintergenicDe novo--Yuen2017 G
KCNH7     5-0003-003chr2:
163524500-163524500
GCintronicDe novo--Yuen2017 G
KCNH7     2-1322-003chr2:
163257530-163257530
CTintronicDe novo--Yuen2017 G
KCNH7     AU3124302chr2:
163991337-163991337
GAintergenicDe novo--Yuen2017 G
KCNH7     AU4032306chr2:
164250367-164250367
TCintergenicDe novo--Yuen2017 G
KCNH7     2-1644-003chr2:
163818209-163818209
GAintergenicDe novo--Yuen2017 G
KCNH7     AU3889305chr2:
163336223-163336223
CTintronicDe novo--Yuen2017 G
KCNH7     2-0122-003chr2:
163929047-163929047
GGTTGTTintergenicDe novo--Yuen2017 G
KCNH7     14280.p1chr2:
163900955-163900955
CTintergenicDe novo--Wilfert2021 G
KCNH7     2-1094-004chr2:
163342786-163342786
CAintronicDe novo--Yuen2017 G
KCNH7     2-0028-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
KCNH7     2-1195-003chr2:
163732069-163732069
TCintergenicDe novo--Yuen2016 G
KCNH7     2-0057-004chr2:
163392423-163392423
GAintronicDe novo--Yuen2017 G
KCNH7     2-1186-003chr2:
163559932-163559932
GTintronicDe novo--Yuen2016 G
Yuen2017 G
KCNH7     7-0148-003chr2:
164355816-164355816
ATintergenicDe novo--Yuen2017 G
KCNH7     2-1114-003chr2:
164319589-164319589
TCintergenicDe novo--Yuen2017 G
KCNH7     7-0148-003chr2:
164355823-164355823
GAintergenicDe novo--Yuen2017 G
KCNH7     AU2140305chr2:
163746377-163746377
TGintergenicDe novo--Yuen2017 G
KCNH7     AU3051303chr2:
164199509-164199509
GAintergenicDe novo--Yuen2017 G
KCNH7     AU076704chr2:
164315766-164315766
TAintergenicDe novo--Yuen2017 G
KCNH7     2-1526-004chr2:
163362218-163362218
CTintronicDe novo--Yuen2017 G
KCNH7     1-0324-003chr2:
163883269-163883269
GTintergenicDe novo--Yuen2017 G
KCNH7     2-1280-003chr2:
163933065-163933065
ATintergenicDe novo--Yuen2017 G
KCNH7     AU3859301chr2:
163909010-163909010
CTintergenicDe novo--Yuen2017 G
KCNH7     AU3984301chr2:
163862845-163862852
ATCTGTCTATCTintergenicDe novo--Yuen2017 G
KCNH7     2-1176-003chr2:
163245511-163245512
GAGintronicDe novo--Yuen2017 G
KCNH7     5-0017-004chr2:
163911806-163911806
CTintergenicDe novo--Yuen2017 G
KCNH7     AU3809302chr2:
164303163-164303163
AGintergenicDe novo--Yuen2017 G
KCNH7     AU4089302chr2:
163985195-163985195
GAintergenicDe novo--Yuen2017 G
KCNH7     1-0435-003chr2:
163609420-163609420
AGintronicDe novo--Yuen2017 G
KCNH7     AU3399303chr2:
164267433-164267433
TGintergenicDe novo--Yuen2017 G
KCNH7     AU4013302chr2:
163578058-163578058
TAintronicDe novo--Yuen2017 G
KCNH7     DEASD_0254_001chr2:
163302876-163302876
GCexonicDe novononsynonymous SNVNM_173162
NM_033272
c.C1185G
c.C1206G
p.H395Q
p.H402Q
22.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KCNH7     AU4013302chr2:
164248279-164248279
TCintergenicDe novo--Yuen2017 G
KCNH7     1-0150-004chr2:
163929047-163929047
GGTTGTTintergenicDe novo--Yuen2017 G
KCNH7     2-0007-003chr2:
164198197-164198197
GAintergenicDe novo--Yuen2017 G
KCNH7     7-0044-003chr2:
164273221-164273221
CTintergenicDe novo--Yuen2017 G
KCNH7     1-0914-003chr2:
164314132-164314132
CAintergenicDe novo--Yuen2017 G
KCNH7     2-0007-003chr2:
164189258-164189258
GAintergenicDe novo--Yuen2017 G
KCNH7     3-0447-000chr2:
163488984-163488984
CGintronicDe novo--Yuen2016 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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