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Results for "CCDC141"

Variant Events: 17

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
CCDC141     Cukier2014:7658chr2:
179733939-179733939
CTexonicUnknownnonsynonymous SNVNM_173648c.G2299Ap.D767N27.40.0039Cukier2014 E
CCDC141     1-0190-003chr2:
179713463-179713463
CTintronicDe novo--Yuen2017 G
CCDC141     2-0028-003chr2:
179783568-179783568
CTexonicDe novononsynonymous SNVNM_001316745
NM_173648
c.G964A
c.G964A
p.V322M
p.V322M
3.681-Yuen2016 G
Yuen2017 G
CCDC141     2-1356-003chr2:
179720409-179720409
TCintronicDe novo--Yuen2017 G
CCDC141     AU009904chr2:
179781209-179781209
CTintronicDe novo--Yuen2017 G
CCDC141     1-0261-004chr2:
179765011-179765011
TCintronicDe novo--Yuen2017 G
CCDC141     1-0483-003chr2:
179791622-179791622
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CCDC141     DEASD_0050_001chr2:
179733838-179733838
CAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
CCDC141     74-0355chr2:
179833588-179833588
AGintronicDe novo--Michaelson2012 G
CCDC141     1-0206-003chr2:
179769890-179769890
GAintronicDe novo--Yuen2017 G
CCDC141     2-1276-003chr2:
179926251-179926251
ATintergenicDe novo--Yuen2017 G
CCDC141     2-0135-004chr2:
179729434-179729434
GAintronicDe novo--Yuen2017 G
CCDC141     iHART1908chr2:
179701954-179701956
GCTGexonicPaternalframeshift deletionNM_173648c.3990_3991delp.R1330fs--Ruzzo2019 G
CCDC141     iHART1257chr2:
179702420-179702420
GAexonicPaternalstopgainNM_173648c.C3526Tp.R1176X39.02.0E-4Ruzzo2019 G
CCDC141     iHART1259chr2:
179702420-179702420
GAexonicPaternalstopgainNM_173648c.C3526Tp.R1176X39.02.0E-4Ruzzo2019 G
CCDC141     AU2950301chr2:
179873168-179873168
AGintronicDe novo--Yuen2017 G
CCDC141     AU3786301chr2:
179940510-179940510
CTintergenicDe 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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