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Results for "CCNH"

Variant Events: 33

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
CCNH     7-0095-004chr5:
87133555-87133555
AGintergenicDe novo--Yuen2017 G
CCNH     AU4033303chr5:
87413756-87413756
AGintergenicDe novo--Yuen2017 G
CCNH     2-0310-003chr5:
86723637-86723637
CGintergenicDe novo--Yuen2017 G
CCNH     1-0564-003chr5:
87476747-87476747
TGintergenicDe novo--Yuen2017 G
CCNH     AU3124304chr5:
87123334-87123334
ACintergenicDe novo--Yuen2017 G
CCNH     AU2437302chr5:
86888314-86888314
AGintergenicDe novo--Yuen2017 G
CCNH     5-0004-003chr5:
87233592-87233592
ACintergenicDe novo--Yuen2017 G
CCNH     2-1155-003chr5:
87076915-87076915
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CCNH     2-1368-003chr5:
86851952-86851952
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CCNH     5-0064-003chr5:
87271262-87271262
AGintergenicDe novo--Yuen2017 G
CCNH     SP0050310chr5:
86690564-86690564
ATintronicDe novo--Fu2022 E
Trost2022 G
CCNH     2-1142-003chr5:
87286613-87286613
GCintergenicDe novo--Yuen2017 G
CCNH     151922chr5:
86690879-86690879
CAexonicDe novononsynonymous SNVNM_001199189
NM_001239
c.G756T
c.G915T
p.K252N
p.K305N
19.51-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CCNH     AU066104chr5:
87465988-87465988
GAintergenicDe novo--Yuen2017 G
CCNH     SP0039900chr5:
86690002-86690002
TCdownstreamDe novo--Fu2022 E
CCNH     A9chr5:
87059436-87059436
AGintergenicDe novo--Wu2018 G
CCNH     1-0756-005chr5:
87213150-87213150
TAintergenicDe novo--Yuen2017 G
CCNH     AU3729301chr5:
87236778-87236778
AGintergenicDe novo--Yuen2017 G
CCNH     AU072005chr5:
87005955-87005955
ACintergenicDe novo--Yuen2017 G
CCNH     REACH000510chr5:
87483301-87483306
CTACTTCintergenicDe novo--Trost2022 G
CCNH     1-0745-003chr5:
86829430-86829430
GAintergenicDe novo--Yuen2017 G
CCNH     AU066818chr5:
86766861-86766861
GAintergenicDe novo--Yuen2017 G
CCNH     AU2485305chr5:
86913318-86913318
TCintergenicDe novo--Yuen2017 G
CCNH     653-04-102262chr5:
86697554-86697554
CGexonicDe novononsynonymous SNVNM_001199189
NM_001239
c.G566C
c.G725C
p.R189T
p.R242T
14.16-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CCNH     2-1169-003chr5:
86831339-86831339
CCTTTCTTTTTCTTintergenicDe novo--Yuen2017 G
CCNH     2-1633-003chr5:
87222855-87222855
CTintergenicDe novo--Yuen2017 G
CCNH     13574.p1chr5:
86705100-86705104
TACTCTintronicDe novo-8.524E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CCNH     1-0296-004chr5:
86784791-86784791
CCAGintergenicDe novo--Yuen2017 G
CCNH     AU4079302chr5:
87288537-87288537
CTintergenicDe novo--Yuen2017 G
CCNH     AU1995302chr5:
87270935-87270935
GCintergenicDe novo--Yuen2017 G
CCNH     1-0203-004chr5:
86750343-86750343
GTintergenicDe novo--Yuen2017 G
CCNH     1-0751-003chr5:
87455510-87455510
CAintergenicDe novo--Yuen2017 G
CCNH     12303.p1chr5:
87332697-87332697
CTintergenicDe novo--Werling2018 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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