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Results for "THYN1"

Variant Events: 5

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
THYN1     10C101297chr11:
134119204-134119204
ACintronicDe novo-8.272E-6Kosmicki2017 E
THYN1     133341chr11:
134119744-134119744
GAexonicnonsynonymous SNVNM_014174
NM_001037304
NM_001037305
NM_199297
NM_199298
c.C362T
c.C362T
c.C362T
c.C362T
c.C362T
p.P121L
p.P121L
p.P121L
p.P121L
p.P121L
34.0-Woodbury-Smith2022 E
THYN1     mAGRE5369chr11:
134121095-134121099
TCAAATexonicMaternalframeshift deletionNM_014174
NM_001037304
NM_001037305
NM_199297
NM_199298
c.147_150del
c.147_150del
c.147_150del
c.147_150del
c.147_150del
p.C49fs
p.C49fs
p.C49fs
p.C49fs
p.C49fs
-2.471E-5Cirnigliaro2023 G
THYN1     mAGRE4497chr11:
134118826-134118827
TCTexonicPaternalframeshift deletionNM_014174
NM_001037305
NM_199298
c.507delG
c.507delG
c.507delG
p.M169fs
p.M169fs
p.M169fs
--Cirnigliaro2023 G
THYN1     AU2462302chr11:
134122757-134122757
CTexonicDe novononsynonymous SNVNM_014174
NM_001037304
NM_001037305
NM_199297
NM_199298
c.G20A
c.G20A
c.G20A
c.G20A
c.G20A
p.R7K
p.R7K
p.R7K
p.R7K
p.R7K
17.69-Trost2022 G
Trost2022 G
Zhou2022 GE
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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