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Results for "NOP56"

Variant Events: 8

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
NOP56     1-0225-003chr20:
2632312-2632312
GAupstreamDe novo--Trost2022 G
Yuen2017 G
NOP56     SP0005848chr20:
2633396-2633396
TCintronicDe novo--Fu2022 E
NOP56     SP0128931chr20:
2638898-2638901
CAAGCexonicDe novononframeshift deletionNM_006392c.1744_1746delp.582_582del-3.0E-4Fu2022 E
Zhou2022 GE
NOP56     SP0126501chr20:
2633408-2633408
TCintronicDe novo-2.0E-4Fu2022 E
NOP56     12787.p1chr20:
2637204-2637204
GGGintronicDe novo--Iossifov2012 E
NOP56     687_16mrchr20:
2638872-2638872
GTexonicDe novostopgainNM_006392c.G1717Tp.E573X37.0-Fu2022 E
NOP56     SP0094108chr20:
2637136-2637136
GAexonicnonsynonymous SNVNM_006392c.G1100Ap.R367H26.6-Zhou2022 GE
NOP56     SP0236994chr20:
2637171-2637171
GTexonicDe novononsynonymous SNVNM_006392c.G1135Tp.A379S26.8-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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