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Results for "SH3PXD2B"

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
SH3PXD2B     1-0354-006chr5:
171899710-171899710
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     2-1567-003chr5:
171937999-171937999
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     1-0079-008chr5:
171850672-171850672
TGintronicDe novo--Yuen2017 G
SH3PXD2B     AU2162302chr5:
171752101-171752101
TCdownstreamDe novo--Yuen2017 G
SH3PXD2B     7-0175-003chr5:
171955143-171955143
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     AU2022302chr5:
171974003-171974003
GTintergenicDe novo--Yuen2017 G
SH3PXD2B     2-0135-003chr5:
171984040-171984040
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     AU3866301chr5:
171882786-171882786
GTintergenicDe novo--Yuen2017 G
SH3PXD2B     AU3846303chr5:
171857130-171857130
TCintronicDe novo--Yuen2017 G
SH3PXD2B     2-1235-003chr5:
171851560-171851560
TCintronicDe novo--Yuen2017 G
SH3PXD2B     13660.p1chr5:
171777452-171777452
CTexonicDe novosynonymous SNVNM_001017995
NM_001308175
c.G927A
c.G927A
p.A309A
p.A309A
-7.504E-5Krumm2015 E
Satterstrom2020 E
SH3PXD2B     AU050910chr5:
172000682-172000682
TAintergenicDe novo--Yuen2017 G
SH3PXD2B     AU4235302chr5:
171864683-171864683
TCintronicDe novo--Yuen2017 G
SH3PXD2B     SP0001207chr5:
171765971-171765971
GAexonicDe novononsynonymous SNVNM_001017995c.C2138Tp.T713M1.9331.656E-5Feliciano2019 E
SH3PXD2B     7-0068-003chr5:
171911168-171911168
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     AU4452302chr5:
171836754-171836754
TCintronicDe novo--Yuen2017 G
SH3PXD2B     2-0285-004chr5:
172036822-172036822
CTintergenicDe novo--Yuen2017 G
SH3PXD2B     TAS_F0211Ychr5:
171766242-171766242
GAexonicDe novononsynonymous SNVNM_001017995c.C1867Tp.P623S5.025-Satterstrom2020 E
SH3PXD2B     13628.p1chr5:
171821545-171821545
CTintronicDe novo-6.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SH3PXD2B     1-0436-003chr5:
172011318-172011318
CGintergenicDe novo--Yuen2016 G
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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