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Results for "TLR5"

Variant Events: 11

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
TLR5     7-0129-003chr1:
223390552-223390552
ATintergenicDe novo--Yuen2017 G
TLR5     SP0069964chr1:
223285959-223285959
CAexonicDe novononsynonymous SNVNM_003268c.G415Tp.G139C12.65-Fu2022 E
Trost2022 G
Zhou2022 GE
TLR5     14153.p1chr1:
223324903-223324903
TCintergenicDe novo--Turner2016 G
TLR5     mAGRE5656chr1:
223285215-223285215
GAexonicPaternalstopgainNM_003268c.C1159Tp.Q387X17.873.0E-4Cirnigliaro2023 G
TLR5     mAGRE5655chr1:
223285215-223285215
GAexonicPaternalstopgainNM_003268c.C1159Tp.Q387X17.873.0E-4Cirnigliaro2023 G
TLR5     4-0091-003chr1:
223285650-223285650
TGexonicDe novononsynonymous SNVNM_003268c.A724Cp.I242L12.21-Trost2022 G
Zhou2022 GE
TLR5     AU2427301chr1:
223291302-223291302
CTintronicDe novo--Trost2022 G
Yuen2017 G
TLR5     2-1353-003chr1:
223361197-223361197
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TLR5     2-1345-003chr1:
223378269-223378269
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
TLR5     74-0481chr1:
223284125-223284125
TCexonicInheritednonsynonymous SNVNM_003268c.A2249Gp.N750S1.4-Patowary2019 E
TLR5     1-1005-005Achr1:
223315376-223315376
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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