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Results for "TRANK1"

Variant Events: 24

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
TRANK1     iHART2921chr3:
36937214-36937215
AGAexonicMaternalframeshift deletionNM_014831c.336delCp.C112fs--Ruzzo2019 G
TRANK1     mAGRE2921chr3:
36937214-36937215
AGAexonicMaternalframeshift deletionNM_014831c.336delCp.C112fs--Cirnigliaro2023 G
TRANK1     mAGRE1625chr3:
36896978-36896978
TAexonicDe novononsynonymous SNVNM_014831c.A4103Tp.D1368V18.04-Cirnigliaro2023 G
TRANK1     SP0031757chr3:
36934387-36934387
CAintronicDe novo--Fu2022 E
TRANK1     SP0104693chr3:
36896719-36896719
AGexonicDe novosynonymous SNVNM_014831c.T4362Cp.A1454A-8.301E-6Fu2022 E
Trost2022 G
Zhou2022 GE
TRANK1     11456.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
TRANK1     AU3885305chr3:
36911568-36911568
TCintronicDe novo--Trost2022 G
Yuen2017 G
TRANK1     SP0024517chr3:
36915689-36915689
TCexonicDe novononsynonymous SNVNM_014831c.A874Gp.K292E18.91-Fu2022 E
Trost2022 G
Zhou2022 GE
TRANK1     SP0078455chr3:
36896916-36896916
CTexonicDe novononsynonymous SNVNM_014831c.G4165Ap.E1389K21.98.282E-6Fu2022 E
Trost2022 G
Zhou2022 GE
TRANK1     1-0901-003chr3:
37025879-37025882
AGAGAintergenicDe novo--Trost2022 G
Yuen2017 G
TRANK1     1-0105-003chr3:
36966091-36966091
GAintronicDe novo--Trost2022 G
TRANK1     MT_107.3chr3:
36969877-36969877
CGintronicDe novo--Trost2022 G
TRANK1     AU2320301chr3:
36920239-36920239
AACintronicDe novo--Trost2022 G
TRANK1     SP0224540chr3:
36931353-36931353
CAexonicDe novononsynonymous SNVNM_014831c.G742Tp.V248F15.18-Trost2022 G
TRANK1     2-1371-003chr3:
36886954-36886954
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TRANK1     SP0206065chr3:
36874616-36874616
GTexonicDe novononsynonymous SNVNM_014831c.C6326Ap.T2109K11.18-Trost2022 G
TRANK1     SP0074146chr3:
36898757-36898757
GAexonicDe novononsynonymous SNVNM_014831c.C2324Tp.T775M14.855.0E-4Trost2022 G
TRANK1     2-0103-004chr3:
36871763-36871763
GAintronicDe novo--Trost2022 G
TRANK1     2-1105-003chr3:
36918711-36918711
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRANK1     A1443Bchr3:
36898930-36898930
CAexonicDe novononsynonymous SNVNM_014831c.G2151Tp.E717D12.66-Fu2022 E
TRANK1     SP0049517chr3:
36872707-36872707
CTexonicDe novosynonymous SNVNM_014831c.G8235Ap.A2745A-9.0E-4Trost2022 G
TRANK1     AU3729301chr3:
36871174-36871174
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRANK1     iHART1625chr3:
36896978-36896978
TAexonicDe novononsynonymous SNVNM_014831c.A4103Tp.D1368V18.04-Ruzzo2019 G
TRANK1     MSSNG00203-003chr3:
36986229-36986229
GAintronicDe novo--Trost2022 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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