or
or
Exact

Results for "KCNT2"

Variant Events: 25

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
KCNT2     1-0563-004chr1:
196201126-196201126
AGintronicDe novo--Yuen2017 G
KCNT2     AU3506303chr1:
196513658-196513658
ACintronicDe novo--Yuen2017 G
KCNT2     10C105736chr1:
196395019-196395019
CGexonicDe novononsynonymous SNVNM_001287819
NM_001287820
NM_198503
c.G1084C
c.G1084C
c.G1084C
p.G362R
p.G362R
p.G362R
29.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KCNT2     AU3397302chr1:
196541907-196541907
CTintronicDe novo--Yuen2017 G
KCNT2     AU4429301chr1:
196616350-196616350
CGintergenicDe novo--Yuen2017 G
KCNT2     2-0090-003chr1:
196267485-196267485
CTintronicDe novo--Yuen2017 G
KCNT2     AU3911301chr1:
196240618-196240618
TAintronicDe novo--Yuen2017 G
KCNT2     2-0305-003chr1:
196311078-196311078
GTintronicDe novo--Yuen2017 G
KCNT2     1-0414-005chr1:
196325658-196325658
AGintronicDe novo--Yuen2017 G
KCNT2     AU3175302chr1:
196402973-196402973
TCintronicDe novo--Yuen2017 G
KCNT2     1-0354-006chr1:
196350447-196350447
TCintronicDe novo--Yuen2017 G
KCNT2     1-0546-003chr1:
196413226-196413240
AAGAGAGAGAGAGAGAAGAGAGAGAGAGintronicDe novo--Yuen2017 G
KCNT2     3-0080-000chr1:
196584786-196584786
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNT2     AU0540301chr1:
196211559-196211559
TCintronicDe novo--Yuen2017 G
KCNT2     1-0206-003chr1:
196248613-196248613
CTintronicDe novo--Yuen2017 G
KCNT2     7-0223-003chr1:
196591161-196591161
TAintergenicDe novo--Yuen2017 G
KCNT2     2-1228-003chr1:
196381005-196381005
AGintronicDe novo--Yuen2016 G
KCNT2     1-0032-003chr1:
196433052-196433052
GAintronicDe novo--Yuen2017 G
KCNT2     AU3451301chr1:
196427096-196427096
CTintronicDe novo--Yuen2017 G
KCNT2     1-0138-004chr1:
196210410-196210410
ATintronicDe novo--Yuen2017 G
KCNT2     14319.p1chr1:
196303054-196303054
CTexonicMosaicsynonymous SNVNM_001287820
NM_001287819
NM_198503
c.G1770A
c.G1920A
c.G1920A
p.S590S
p.S640S
p.S640S
-8.312E-6Dou2017 E
KCNT2     1-0489-003chr1:
196497399-196497399
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KCNT2     5-0046-003chr1:
196473197-196473197
CAintronicDe novo--Yuen2017 G
KCNT2     1-0068-003chr1:
196248552-196248552
TAintronicDe novo--Yuen2017 G
KCNT2     5-0099-003chr1:
196334243-196334243
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