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Results for "SOGA1"

Variant Events: 21

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
SOGA1     2-0162-003chr20:
35451464-35451464
CAintronicDe novo--Trost2022 G
SOGA1     1-0139-003chr20:
35420903-35420903
CTintronicDe novo--Yuen2017 G
SOGA1     2-1504-003chr20:
35447574-35447576
AATAintronicDe novo--Trost2022 G
SOGA1     MSSNG00117-003chr20:
35437485-35437485
CTintronicDe novo--Trost2022 G
SOGA1     SP0113337chr20:
35421872-35421872
CTexonicDe novononsynonymous SNVNM_080627c.G4613Ap.R1538Q24.5-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SOGA1     2-1458-003chr20:
35433279-35433279
GAexonicDe novosynonymous SNVNM_080627
NM_199181
c.C2946T
c.C2232T
p.A982A
p.A744A
-3.0E-4Trost2022 G
SOGA1     REACH000380chr20:
35427956-35427956
GCintronicDe novo--Trost2022 G
SOGA1     SMHC00824s000chr20:
35434275-35434275
TAexonicDe novononsynonymous SNVNM_080627
NM_199181
c.A2900T
c.A2186T
p.D967V
p.D729V
15.57-Yuan2023 E
SOGA1     3-0221-000chr20:
35426687-35426687
GAintronicDe novo--Trost2022 G
SOGA1     Wang2023:824chr20:
35434275-35434275
TAexonicDe novononsynonymous SNVNM_080627
NM_199181
c.A2900T
c.A2186T
p.D967V
p.D729V
15.57-Wang2023 E
SOGA1     1-0530-003chr20:
35470597-35470597
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SOGA1     ASDFI_1477chr20:
35457578-35457578
AGexonicDe novononsynonymous SNVNM_080627
NM_199181
c.T950C
c.T236C
p.L317P
p.L79P
23.3-Lim2017 E
SOGA1     3-0430-000chr20:
35439770-35439770
GAintronicDe novo--Trost2022 G
Yuen2016 G
SOGA1     1-1034-003chr20:
35486909-35486909
ACintronicDe novo--Trost2022 G
SOGA1     SSC08886chr20:
35467606-35467606
GAintronicDe novo-8.953E-6Trost2022 G
SOGA1     SP0017520 Complex Event; expand row to view variants  De novo--Fu2022 E
Trost2022 G
SOGA1     SP0052988chr20:
35412452-35412452
GAUTR3De novo--Fu2022 E
Trost2022 G
SOGA1     SP0037663chr20:
35491824-35491824
CGUTR5De novo--Fu2022 E
SOGA1     SP0073024chr20:
35433230-35433230
GAexonicDe novononsynonymous SNVNM_080627
NM_199181
c.C2995T
c.C2281T
p.R999C
p.R761C
20.7-Fu2022 E
Trost2022 G
Zhou2022 GE
SOGA1     PN400285chr20:
35422242-35422242
GAexonicUnknownnonsynonymous SNVNM_080627c.C4243Tp.R1415C19.23-Leblond2019 E
SOGA1     13768.p1chr20:
35467606-35467606
GAintronicDe novo-8.953E-6Satterstrom2020 E
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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