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Results for "CGNL1"

Variant Events: 26

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
CGNL1     5-0147-003chr15:
57749819-57749819
TCintronicDe novo--Yuen2017 G
CGNL1     1-0203-003chr15:
57793485-57793485
CTintronicDe novo--Yuen2017 G
CGNL1     2-1399-003chr15:
57743096-57743096
AGintronicDe novo--Yuen2017 G
CGNL1     AU4452302chr15:
57864599-57864599
GAintergenicDe novo--Yuen2017 G
CGNL1     1-0546-003chr15:
57764736-57764738
AGGAGGGintronicDe novo--Yuen2017 G
CGNL1     13494.p1chr15:
57815788-57815788
GTexonicDe novononsynonymous SNVNM_032866
NM_001252335
c.G2817T
c.G2817T
p.M939I
p.M939I
11.9-Ji2016 E
Krumm2015 E
Satterstrom2020 E
CGNL1     AU3964302chr15:
57819501-57819501
GAintronicDe novo--Yuen2017 G
CGNL1     JASD_Fam0082chr15:
57810657-57810657
GCexonicDe novononsynonymous SNVNM_032866
NM_001252335
c.G2677C
c.G2677C
p.A893P
p.A893P
13.34-Takata2018 E
CGNL1     iHART2868chr15:
57743692-57743702
TTATAGGCTTGTexonicMaternalframeshift deletionNM_032866
NM_001252335
c.1804_1808del
c.1804_1808del
p.A602fs
p.A602fs
--Ruzzo2019 G
CGNL1     1-0219-003chr15:
57796616-57796616
AGintronicDe novo--Yuen2017 G
CGNL1     PN400321chr15:
57838308-57838308
TGexonicUnknownnonsynonymous SNVNM_032866
NM_001252335
c.T3644G
c.T3644G
p.V1215G
p.V1215G
24.90.0075Leblond2019 E
CGNL1     13418.p1chr15:
57816830-57816830
CAexonicDe novononsynonymous SNVNM_032866
NM_001252335
c.C2920A
c.C2920A
p.Q974K
p.Q974K
29.6-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
CGNL1     1-0991-003chr15:
57760134-57760134
CTintronicDe novo--Yuen2017 G
CGNL1     13951.p1chr15:
57874781-57874781
CGintergenicDe novo--Turner2016 G
CGNL1     1-0736-003chr15:
57714960-57714960
TCintronicDe novo--Yuen2017 G
CGNL1     SSC07470chr15:
57816830-57816830
CAexonicDe novononsynonymous SNVNM_032866
NM_001252335
c.C2920A
c.C2920A
p.Q974K
p.Q974K
29.6-Lim2017 E
CGNL1     2-0022-005chr15:
57801686-57801686
CGintronicDe novo--Yuen2017 G
CGNL1     2-0310-004chr15:
57778278-57778278
CTintronicDe novo--Yuen2017 G
CGNL1     AU3765302chr15:
57727360-57727365
TAAAAATAAAAintronicDe novo--Yuen2017 G
CGNL1     AU4079301chr15:
57814137-57814137
GTintronicDe novo--Yuen2017 G
CGNL1     PN400282chr15:
57838308-57838308
TGexonicUnknownnonsynonymous SNVNM_032866
NM_001252335
c.T3644G
c.T3644G
p.V1215G
p.V1215G
24.90.0075Leblond2019 E
CGNL1     2-1303-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
Yuen2017 G
CGNL1     2-1440-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
CGNL1     12656.p1chr15:
57746056-57746056
ACintronicDe novo--Satterstrom2020 E
CGNL1     2-0202-003chr15:
57853488-57853488
AGintergenicDe novo--Yuen2017 G
CGNL1     AU4215302chr15:
57686523-57686523
ACintronicDe 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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