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Results for "TUSC5"

Variant Events: 9

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
TUSC5     7-0171-003chr17:
1191227-1191227
GAintronicDe novo--Trost2022 G
Yuen2017 G
TUSC5     AU0540301chr17:
1209933-1209933
CTintergenicDe novo--Yuen2017 G
TUSC5     P6Q4Z_01chr17:
1196888-1196888
ATintronicDe novo--Trost2022 G
TUSC5     111311chr17:
1198822-1198822
CTexonicnonsynonymous SNVNM_172367c.C425Tp.A142V31.0-Woodbury-Smith2022 E
TUSC5     4-0102-003chr17:
1185540-1185540
GAintronicDe novo--Trost2022 G
TUSC5     MSSNG00377-003chr17:
1187757-1187757
GAintronicDe novo--Trost2022 G
TUSC5     3-0436-000chr17:
1216342-1216342
CTintergenicDe novo--Yuen2017 G
TUSC5     4-0102-003chr17:
1185527-1185527
TCintronicDe novo--Trost2022 G
TUSC5     AU4463303chr17:
1218156-1218156
GAintergenicDe novo--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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