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Results for "TP53BP1"

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
TP53BP1     More2023:22chr15:
43714134-43714134
CAexonicInheritednonsynonymous SNVNM_001141979
NM_001141980
NM_005657
c.G4019T
c.G4019T
c.G4004T
p.G1340V
p.G1340V
p.G1335V
16.644.119E-5More2023 G
TP53BP1     SP0074593chr15:
43713200-43713200
TCintronicDe novo--Fu2022 E
Trost2022 G
TP53BP1     iHART1583chr15:
43802567-43802567
CAsplicingMaternalsplicing--Ruzzo2019 G
TP53BP1     AU1795303chr15:
43736788-43736788
CTintronicDe novo--Trost2022 G
Yuen2017 G
TP53BP1     AU058103chr15:
43721750-43721750
TCintronicDe novo--Trost2022 G
Yuen2017 G
TP53BP1     SP0220757chr15:
43739686-43739686
GTintronicDe novo--Trost2022 G
TP53BP1     7-0381-003chr15:
43747080-43747080
CTintronicDe novo--Trost2022 G
TP53BP1     REACH000173chr15:
43709810-43709812
CTTCintronicDe novo--Trost2022 G
TP53BP1     08C78257chr15:
43705517-43705517
CTexonicDe novononsynonymous SNVNM_001141979
NM_001141980
NM_005657
c.G5099A
c.G5105A
c.G5090A
p.G1700E
p.G1702E
p.G1697E
19.38.814E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TP53BP1     80001101240chr15:
43699663-43699663
CTexonicDe novostopgainNM_001141979
NM_001141980
NM_005657
c.G5846A
c.G5852A
c.G5837A
p.W1949X
p.W1951X
p.W1946X
47.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TP53BP1     AU3790301chr15:
43717838-43717838
AGintronicDe novo--Trost2022 G
Yuen2017 G
TP53BP1     13324.p1chr15:
43718932-43718932
CTintronicDe novo--Turner2016 G
TP53BP1     mAGRE1583chr15:
43802567-43802567
CAsplicingMaternalsplicing--Cirnigliaro2023 G
TP53BP1     2-0012-004chr15:
43728149-43728150
CTCintronicDe novo--Trost2022 G
Yuen2017 G
TP53BP1     MSSNG00251-003chr15:
43801194-43801194
GAintronicDe novo--Trost2022 G
TP53BP1     REACH000558chr15:
43752584-43752584
GAintronicDe novo--Trost2022 G
TP53BP1     SP0164189chr15:
43771564-43771564
TCintronicDe novo--Trost2022 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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