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Results for "SPPL3"

Variant Events: 25

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
SPPL3     AU1725302chr12:
121303651-121303651
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPPL3     2-0022-004chr12:
121234084-121234089
CAGGAGCAGintronicDe novo--Yuen2017 G
SPPL3     9E632chr12:
121206760-121206760
AGexonicDe novononsynonymous SNVNM_139015c.T605Cp.F202S20.2-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPPL3     AU070007chr12:
121266438-121266438
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPPL3     2-1723-003chr12:
121199710-121199710
GCdownstreamDe novo--Trost2022 G
SPPL3     MSSNG00020-003chr12:
121204737-121204737
GAintronicDe novo--Trost2022 G
SPPL3     5-0091-003chr12:
121265147-121265158
AATAATAATAATAintronicDe novo--Trost2022 G
SPPL3     2-1625-003chr12:
121281686-121281686
GTintronicDe novo--Trost2022 G
SPPL3     3-0648-000chr12:
121244062-121244062
GAintronicDe novo--Trost2022 G
SPPL3     AU3680301chr12:
121317121-121317121
CTintronicDe novo--Yuen2017 G
SPPL3     3-0223-000chr12:
121247829-121247829
GCintronicDe novo--Trost2022 G
SPPL3     3-0777-000chr12:
121223677-121223677
GAintronicDe novo--Trost2022 G
SPPL3     7-0224-003chr12:
121230757-121230757
CTintronicDe novo--Trost2022 G
SPPL3     2-1198-003chr12:
121207603-121207603
CTintronicDe novo--Trost2022 G
SPPL3     AU2463301chr12:
121207772-121207772
CTintronicDe novo--Trost2022 G
SPPL3     7-0387-004chr12:
121340826-121340826
CGintronicDe novo--Trost2022 G
SPPL3     2-0112-005chr12:
121332165-121332169
CATAACintronicDe novo--Trost2022 G
SPPL3     REACH000258chr12:
121339286-121339286
CTintronicDe novo--Trost2022 G
SPPL3     MSSNG00019-003Achr12:
121326077-121326077
CAintronicDe novo--Trost2022 G
SPPL3     AU2405301chr12:
121328120-121328120
CTintronicDe novo--Trost2022 G
SPPL3     3-0253-000chr12:
121302054-121302054
TCintronicDe novo--Trost2022 G
SPPL3     SJD_15.3chr12:
121325953-121325953
ACintronicDe novo--Trost2022 G
SPPL3     SP0006477chr12:
121222473-121222473
TCintronicDe novo--Fu2022 E
SPPL3     JASD_Fam0208chr12:
121206844-121206844
CCAGAGexonicDe novoframeshift insertionNM_139015c.520_521insCTCTp.C174fs--Takata2018 E
SPPL3     1-0006-003chr12:
121325666-121325669
GTGTGintronicDe novo--Trost2022 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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