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Results for "SH3PXD2A"

Variant Events: 20

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
SH3PXD2A     7-0161-003chr10:
105377237-105377237
TCintronicDe novo--Yuen2017 G
SH3PXD2A     AU0636303chr10:
105477344-105477344
CTintronicDe novo--Yuen2017 G
SH3PXD2A     2-1246-003chr10:
105534447-105534447
TCintronicDe novo--Yuen2017 G
SH3PXD2A     1-0507-003chr10:
105573065-105573065
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SH3PXD2A     5-0040-003chr10:
105413602-105413602
GAintronicDe novo--Yuen2017 G
SH3PXD2A     DEASD_0339_001chr10:
105363080-105363080
GCexonicDe novononsynonymous SNVNM_014631c.C1811Gp.T604S0.403-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SH3PXD2A     1-0285-003chr10:
105423362-105423362
CTintronicDe novo--Yuen2017 G
SH3PXD2A     12228.p1chr10:
105495554-105495554
AGexonicDe novononsynonymous SNVNM_014631c.T242Cp.F81S17.81-Ji2016 E
Krumm2015 E
SH3PXD2A     1-0269-003chr10:
105490355-105490355
GCintronicDe novo--Yuen2017 G
SH3PXD2A     5-0018-003chr10:
105434666-105434666
AGintronicDe novo--Yuen2017 G
SH3PXD2A     1-0344-003chr10:
105426484-105426484
CTintronicDe novo--Yuen2017 G
SH3PXD2A     1-0669-003chr10:
105483438-105483438
GAintronicDe novo--Yuen2017 G
SH3PXD2A     13322.p1chr10:
105495476-105495476
AAGintronicDe novo--Satterstrom2020 E
SH3PXD2A     SP0118178chr10:
105361800-105361800
GTexonicDe novononsynonymous SNVNM_014631c.C3091Ap.R1031S16.2-Fu2022 E
SH3PXD2A     1-0079-008chr10:
105413148-105413148
TTATTGintronicDe novo--Yuen2017 G
SH3PXD2A     1-0329-003chr10:
105413148-105413148
TTATTGintronicDe novo--Yuen2017 G
SH3PXD2A     1-0329-004chr10:
105413148-105413148
TTATTGintronicDe novo--Yuen2017 G
SH3PXD2A     AU4343302chr10:
105531725-105531725
CGintronicDe novo--Yuen2017 G
SH3PXD2A     1-0565-004chr10:
105479036-105479036
TCintronicDe novo--Yuen2017 G
SH3PXD2A     AU3605304chr10:
105426001-105426001
CTintronicDe 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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