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Results for "CHERP"

Variant Events: 11

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
CHERP     14287.p1chr19:
16652902-16652912
AAAGCCGGGGGAintronicDe novo--Satterstrom2020 E
CHERP     1-0079-003chr19:
16651651-16651651
GGGCGCGGGCCACCintronicDe novo--Yuen2017 G
CHERP     JASD_Fam0071chr19:
16630447-16630447
TCexonicDe novononsynonymous SNVNM_006387c.A2542Gp.M848V15.57-Takata2018 E
CHERP     JASD_Fam0160chr19:
16643425-16643425
CGexonicDe novononsynonymous SNVNM_006387c.G658Cp.D220H23.9-Takata2018 E
CHERP     MT_54.3chr19:
16643436-16643436
TCexonicnonsynonymous SNVNM_006387c.A647Gp.Y216C23.6-Antaki2022 GE
CHERP     2-1341-004chr19:
16636575-16636575
TTCintronicDe novo--Yuen2017 G
CHERP     SP0077208chr19:
16630059-16630059
CTexonicDe novononsynonymous SNVNM_006387c.G2662Ap.V888M20.51.664E-5Fu2022 E
CHERP     SP0082959chr19:
16632454-16632454
GAexonicDe novosynonymous SNVNM_006387c.C1992Tp.H664H-9.52E-6Fu2022 E
CHERP     2-0143-004chr19:
16629578-16629578
ATUTR3De novo--Yuen2017 G
CHERP     AU3913303chr19:
16659458-16659458
AGintergenicDe novo--Yuen2017 G
CHERP     SSC05666chr19:
16652824-16652824
AGexonicDe novononsynonymous SNVNM_006387c.T56Cp.L19P26.9-Lim2017 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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