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Results for "TFPT"

Variant Events: 6

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
TFPT     MSSNG00256-004chr19:
54615116-54615116
CTintronicDe novo--Trost2022 G
TFPT     Kim2020:B4chr19:
54610400-54610404
TTGTCTexonicDe novoframeshift deletionNM_013342c.715_718delp.D239fs--Kim2020 E
TFPT     mAGRE4818chr19:
54610433-54610434
AGAexonicPaternalframeshift deletionNM_013342c.685delCp.L229fs-1.648E-5Cirnigliaro2023 G
TFPT     SP0139133chr19:
54613493-54613493
CAexonicDe novosynonymous SNVNM_013342c.G294Tp.R98R--Fu2022 E
Trost2022 G
Zhou2022 GE
TFPT     Wang2023:760chr19:
54618031-54618033
CTGCexonicDe novoframeshift deletionNM_013342c.71_72delp.S24fs--Wang2023 E
TFPT     SP0040514chr19:
54613578-54613579
CACintronicDe novo--Fu2022 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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