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Results for "PNN"

Variant Events: 10

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
PNN     SP0087342chr14:
39651046-39651046
CTexonicDe novosynonymous SNVNM_002687c.C2133Tp.D711D--Fu2022 E
Trost2022 G
Zhou2022 GE
PNN     3-0309-000chr14:
39646291-39646291
AATintronicDe novo--Trost2022 G
PNN     2-1617-003chr14:
39649558-39649558
GTintronicDe novo--Trost2022 G
Yuen2017 G
PNN     AU1995302chr14:
39695451-39695451
GAintergenicDe novo--Yuen2017 G
PNN     iHART2845chr14:
39650999-39650999
CTexonicPaternalstopgainNM_002687c.C2086Tp.R696X37.0-Ruzzo2019 G
PNN     SP0032686chr14:
39649856-39649856
CTexonicDe novostopgainNM_002687c.C943Tp.R315X21.9-Fu2022 E
Trost2022 G
Zhou2022 GE
PNN     mAGRE2845chr14:
39650999-39650999
CTexonicPaternalstopgainNM_002687c.C2086Tp.R696X37.0-Cirnigliaro2023 G
PNN     SP0052503chr14:
39650525-39650525
ATexonicDe novononsynonymous SNVNM_002687c.A1612Tp.T538S2.812-Fu2022 E
Trost2022 G
Zhou2022 GE
PNN     mAGRE4617chr14:
39650975-39650977
AAGAexonicMaternalframeshift deletionNM_002687c.2063_2064delp.K688fs--Cirnigliaro2023 G
PNN     SP0045838chr14:
39650348-39650348
CTexonicDe novostopgainNM_002687c.C1435Tp.Q479X9.909-Fu2022 E
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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