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Results for "CCSER2"

Variant Events: 38

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
CCSER2     74-0265chr10:
86147840-86147840
CTintronicInherited--Michaelson2012 G
CCSER2     1-0225-003chr10:
86650394-86650394
GCintergenicDe novo--Yuen2017 G
CCSER2     2-1146-003chr10:
86129784-86129784
AGintronicDe novo--Yuen2017 G
CCSER2     AU072005chr10:
86560265-86560265
CAintergenicDe novo--Yuen2017 G
CCSER2     A10chr10:
86149434-86149434
TCintronicDe novo--Wu2018 G
CCSER2     2-1117-003chr10:
86906637-86906637
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CCSER2     AU1952305chr10:
86347570-86347570
TGintergenicDe novo--Yuen2017 G
CCSER2     1-0436-003chr10:
86751100-86751100
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CCSER2     2-1212-003chr10:
86421917-86421917
GTintergenicDe novo--Yuen2017 G
CCSER2     13949.p1chr10:
86131229-86131229
AGexonicDe novononsynonymous SNVNM_001284240
NM_001284241
NM_018999
c.A421G
c.A421G
c.A421G
p.K141E
p.K141E
p.K141E
17.85-Lim2017 E
CCSER2     iHART2845chr10:
86230175-86230176
GAGexonicPaternalframeshift deletionNM_001284242
NM_001284243
NM_001284240
NM_018999
c.478delA
c.478delA
c.2197delA
c.2197delA
p.K160fs
p.K160fs
p.K733fs
p.K733fs
--Ruzzo2019 G
CCSER2     2-1265-003chr10:
86235542-86235542
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CCSER2     AU3646301chr10:
86199604-86199604
GAintronicDe novo--Yuen2017 G
CCSER2     1-0385-003chr10:
86883818-86883818
GAintergenicDe novo--Yuen2017 G
CCSER2     1-0144-005chr10:
86358776-86358776
TTGTTAGintergenicDe novo--Yuen2017 G
CCSER2     AU4372309chr10:
86209037-86209037
GAintronicDe novo--Yuen2017 G
CCSER2     2-1277-004chr10:
86263806-86263809
ATATAintronicDe novo--Yuen2017 G
CCSER2     1-0006-004chr10:
86494595-86494595
AGintergenicDe novo--Yuen2017 G
CCSER2     2-0081-003chr10:
86949560-86949560
CTintergenicDe novo--Yuen2017 G
CCSER2     AU028305chr10:
86467613-86467613
AGintergenicDe novo--Yuen2017 G
CCSER2     AU076705chr10:
86109012-86109012
GAintronicDe novo--Yuen2017 G
CCSER2     2-0320-003chr10:
86100155-86100155
CTintronicDe novo--Yuen2017 G
CCSER2     2-1522-003chr10:
86535239-86535241
CATCintergenicDe novo--Yuen2017 G
CCSER2     AU3907302chr10:
86218173-86218173
CTintronicDe novo--Yuen2017 G
CCSER2     1-0804-003chr10:
86700809-86700809
AGintergenicDe novo--Yuen2017 G
CCSER2     2-1362-004chr10:
86807458-86807458
ACintergenicDe novo--Yuen2017 G
CCSER2     2-0043-003chr10:
86230924-86230927
TATCTintronicDe novo--Yuen2016 G
CCSER2     AU3763305chr10:
86563293-86563295
CAACAAAintergenicDe novo--Yuen2017 G
CCSER2     AU3787303chr10:
86450749-86450749
TCintergenicDe novo--Yuen2017 G
CCSER2     1-0484-003chr10:
86922101-86922101
GTintergenicDe novo--Yuen2017 G
CCSER2     AU079605chr10:
86440538-86440542
CTTCTCintergenicDe novo--Yuen2017 G
CCSER2     1-0401-003chr10:
86460946-86460946
TGintergenicDe novo--Yuen2017 G
CCSER2     1-0918-003chr10:
86505978-86505978
ATintergenicDe novo--Yuen2017 G
CCSER2     1-0401-003chr10:
86104068-86104068
TCintronicDe novo--Yuen2017 G
CCSER2     1-0303-003chr10:
86161615-86161615
GAintronicDe novo--Yuen2017 G
CCSER2     2-1163-003chr10:
86796951-86796951
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
CCSER2     2-0296-004chr10:
86361757-86361757
GCintergenicDe novo--Yuen2017 G
CCSER2     1-0446-003chr10:
86647902-86647902
TCintergenicDe 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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