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Results for "SSPO"

Variant Events: 16

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
SSPO     11497.p1chr7:
149519648-149519648
CTexonicDe novononsynonymous SNVNM_198455c.C13138Tp.R4380W-9.113E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
SSPO     2-1440-003chr7:
149507507-149507507
GCintronicDe novo--Yuen2016 G
Yuen2017 G
SSPO     14420.p1chr7:
149522912-149522912
CGexonicMosaic, De novononsynonymous SNVNM_198455c.C14131Gp.L4711V--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SSPO     8C365chr7:
149498999-149498999
ATexonicDe novononsynonymous SNVNM_198455c.A7451Tp.D2484V--Satterstrom2020 E
SSPO     2-1169-004chr7:
149506638-149506638
CAintronicDe novo--Yuen2017 G
SSPO     2-0198-003chr7:
149488100-149488100
TAintronicDe novo--Yuen2017 G
SSPO     G01-GEA-59-HIchr7:
149522448-149522448
GAexonicDe novononsynonymous SNVNM_198455c.G14075Ap.R4692H-1.0E-4Satterstrom2020 E
SSPO     2-0198-005chr7:
149488100-149488100
TAintronicDe novo--Yuen2017 G
SSPO     12558.p1chr7:
149503920-149503920
AGsplicingDe novosplicing--Ji2016 E
Krumm2015 E
SSPO     7-0215-003chr7:
149482406-149482406
GTintronicDe novo--Yuen2017 G
SSPO     iHART1191chr7:
149490709-149490709
GAsplicingPaternalsplicing-3.363E-5Ruzzo2019 G
SSPO     iHART3207chr7:
149483313-149483313
TCsplicingMaternalsplicing-1.16E-5Ruzzo2019 G
SSPO     DEASD_0277_001chr7:
149477097-149477097
GAexonicDe novononsynonymous SNVNM_198455c.G1274Ap.G425E--Kosmicki2017 E
SSPO     2-1577-003chr7:
149525373-149525373
GAintronicDe novo--Yuen2017 G
SSPO     NDAR_INVVT483LX0_wes1chr7:
149477948-149477948
CTexonicDe novosynonymous SNVNM_198455c.C1719Tp.L573L--Kosmicki2017 E
Satterstrom2020 E
SSPO     08C79054chr7:
149496954-149496954
GAexonicDe novononsynonymous SNVNM_198455c.G6994Ap.G2332R-2.04E-5Kosmicki2017 E
Satterstrom2020 E
Source Variant Information

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Paper alias:

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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
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