or
or
Exact

Results for "SH3BP4"

Variant Events: 58

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
SH3BP4     2-1485-004chr2:
236077927-236077927
AACTTintergenicDe novo--Yuen2017 G
SH3BP4     mAGRE5723chr2:
235950985-235950985
GAexonicPaternalstopgainNM_014521c.G1572Ap.W524X40.08.24E-6Cirnigliaro2023 G
SH3BP4     1-0010-005chr2:
236077948-236077948
AATGGTAATGGintergenicDe novo--Yuen2017 G
SH3BP4     14590.p1chr2:
235887588-235887588
GAintronicDe novo--Turner2016 G
SH3BP4     14482.p1chr2:
235953437-235953437
GAintronicDe novo--Turner2016 G
SH3BP4     13539.p1chr2:
236096782-236096782
GAintergenicDe novo--Turner2016 G
SH3BP4     1-0248-003chr2:
235995900-235995900
CTintergenicDe novo--Yuen2017 G
SH3BP4     JASD_Fam0208chr2:
235951884-235951884
TTTGexonicDe novoframeshift insertionNM_014521c.2471_2472insTGp.L824fs--Takata2018 E
SH3BP4     12498.p1chr2:
235970607-235970607
AGintergenicDe novo--Turner2016 G
SH3BP4     12568.p1chr2:
236003050-236003050
AGintergenicDe novo--Turner2016 G
SH3BP4     7-0095-003chr2:
236077927-236077927
AACTTintergenicDe novo--Yuen2017 G
SH3BP4     1-0566-003chr2:
236257548-236257548
TCintergenicDe novo--Yuen2017 G
SH3BP4     2-0304-004chr2:
235990935-235990935
AGintergenicDe novo--Yuen2017 G
SH3BP4     1-0261-003chr2:
236077945-236077945
AATGGintergenicDe novo--Yuen2017 G
SH3BP4     1-0388-003chr2:
236004884-236004884
AGintergenicDe novo--Yuen2017 G
SH3BP4     AU2137304chr2:
236400360-236400360
AGintergenicDe novo--Yuen2017 G
SH3BP4     AU3368303chr2:
235982614-235982614
GAintergenicDe novo--Yuen2017 G
SH3BP4     AU1698301chr2:
235995027-235995027
GTintergenicDe novo--Yuen2017 G
SH3BP4     1-0180-004chr2:
236077927-236077927
AACTTintergenicDe novo--Yuen2017 G
SH3BP4     2-1644-004chr2:
236050865-236050865
AGintergenicDe novo--Yuen2017 G
SH3BP4     2-1644-004chr2:
235916706-235916706
GAintronicDe novo--Trost2022 G
Yuen2017 G
SH3BP4     2-0019-004chr2:
236230675-236230675
TCintergenicDe novo--Yuen2017 G
SH3BP4     2-1629-003chr2:
236345036-236345036
CTintergenicDe novo--Yuen2017 G
SH3BP4     AU072505chr2:
236312764-236312764
CAintergenicDe novo--Yuen2017 G
SH3BP4     1-0289-003chr2:
236002069-236002069
CTintergenicDe novo--Yuen2017 G
SH3BP4     2-0289-004chr2:
235929960-235929960
ACintronicDe novo--Trost2022 G
Yuen2017 G
SH3BP4     A17chr2:
236123425-236123425
GAintergenicDe novo--Wu2018 G
SH3BP4     1-0303-004chr2:
236396985-236396985
ACintergenicDe novo--Yuen2017 G
SH3BP4     1-0329-004chr2:
236253382-236253386
TACACTintergenicDe novo--Yuen2017 G
SH3BP4     2-1456-003chr2:
235895039-235895039
GAintronicDe novo--Trost2022 G
Yuen2017 G
SH3BP4     AU4013303chr2:
236378356-236378356
TCintergenicDe novo--Yuen2017 G
SH3BP4     2-1359-004chr2:
236251777-236251777
GAintergenicDe novo--Yuen2017 G
SH3BP4     2-1261-003chr2:
236059614-236059614
GAintergenicDe novo--Yuen2017 G
SH3BP4     2-1788-003chr2:
235884398-235884398
TCintronicDe novo--Trost2022 G
SH3BP4     AU4485302chr2:
235921134-235921134
ATintronicDe novo--Trost2022 G
Yuen2017 G
SH3BP4     1-1179-003chr2:
235891361-235891362
AGAintronicDe novo--Trost2022 G
SH3BP4     7-0059-003chr2:
235875505-235875506
TGATintronicDe novo--Trost2022 G
SH3BP4     1-0458-005chr2:
236331349-236331349
ATintergenicDe novo--Yuen2017 G
SH3BP4     1018chr2:
235876266-235876266
CTintronicDe novo--Trost2022 G
SH3BP4     2-0244-003chr2:
236107935-236107935
CAintergenicDe novo--Yuen2017 G
SH3BP4     7-0148-003chr2:
235956993-235956993
GCintronicDe novo--Yuen2017 G
SH3BP4     2-0013-003chr2:
236077927-236077927
AACTTintergenicDe novo--Yuen2017 G
SH3BP4     3-0508-000chr2:
235932241-235932241
GAintronicDe novo--Trost2022 G
SH3BP4     2-1093-009chr2:
235956569-235956569
TGintronicDe novo--Trost2022 G
Yuen2017 G
SH3BP4     1-0945-003chr2:
235953760-235953760
GAintronicDe novo--Trost2022 G
SH3BP4     2-0289-003chr2:
236048051-236048051
TGintergenicDe novo--Yuen2017 G
SH3BP4     MSSNG00355-003chr2:
235898481-235898481
CTintronicDe novo--Trost2022 G
SH3BP4     MSSNG00444-003chr2:
235913005-235913005
TAintronicDe novo--Trost2022 G
SH3BP4     1-0244-003chr2:
236199283-236199283
ATintergenicDe novo--Yuen2017 G
SH3BP4     1-0169-004chr2:
236077927-236077927
AACTTintergenicDe novo--Yuen2017 G
SH3BP4     2-1329-003chr2:
236288717-236288717
GAintergenicDe novo--Yuen2017 G
SH3BP4     2-1089-004chr2:
236077885-236077885
AGintergenicDe novo--Yuen2017 G
SH3BP4     2-1461-003chr2:
236174434-236174434
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SH3BP4     3-0436-000chr2:
236352766-236352766
GAintergenicDe novo--Yuen2017 G
SH3BP4     Wang2023:357chr2:
235951736-235951736
GAexonicDe novononsynonymous SNVNM_014521c.G2323Ap.A775T18.01-Wang2023 E
SH3BP4     2-1428-003chr2:
236074921-236074921
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SH3BP4     60-2036chr2:
235950057-235950057
AGexonicInheritednonsynonymous SNVNM_014521c.A644Gp.N215S8.0884.124E-5Patowary2019 E
SH3BP4     AU2292302chr2:
236135337-236135337
CTintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More