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Results for "PRR14L"

Variant Events: 7

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
PRR14L     AU050704chr22:
32109594-32109594
CTexonicDe novononsynonymous SNVNM_173566c.G4231Ap.A1411T14.02-Yuen2017 G
PRR14L     3-0075-000chr22:
32112105-32112105
TCexonicDe novononsynonymous SNVNM_173566c.A1720Gp.S574G15.74-Tammimies2015 E
PRR14L     12680.p1chr22:
32090733-32090733
GAintronicDe novo--Turner2016 G
PRR14L     AU2793303chr22:
32101659-32101659
AGintronicDe novo--Yuen2017 G
PRR14L     2-1454-003chr22:
32108905-32108905
ATexonicDe novostopgainNM_173566c.T4920Ap.C1640X44.0-Yuen2017 G
PRR14L     5-0138-003chr22:
32148927-32148927
GAintergenicDe novo--Yuen2017 G
PRR14L     80001102691chr22:
32111363-32111363
AATexonicDe novoframeshift insertionNM_173566c.2461dupAp.I821fs--Satterstrom2020 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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