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Results for "CHM"

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
CHM     AU024105chrX:
85188550-85188557
GAAGTTAAGAAintronicDe novo--Yuen2017 G
CHM     1-0372-003chrX:
85233896-85233896
CTsplicingDe novosplicing13.75-Yuen2017 G
CHM     2-1266-003chrX:
85209850-85209850
TAintronicDe novo--Yuen2017 G
CHM     AU3154302chrX:
85168330-85168344
AAAAAAAAAAAGAAAAAAAintronicDe novo--Yuen2017 G
CHM     10C109030chrX:
85233896-85233896
CTsplicingDe novosplicing13.75-Satterstrom2020 E
CHM     AU0146301chrX:
85365019-85365019
GAintergenicDe novo--Yuen2017 G
CHM     AU0786305chrX:
85217323-85217323
CAintronicDe novo--Yuen2017 G
CHM     ASD086chrX:
85212934-85212934
AGexonicInheritednonsynonymous SNVNM_000390c.T866Cp.M289T17.0-Tran2020 E
Wu2019 E
CHM     74-0115chrX:
85247868-85247868
GAintronicDe novo--Michaelson2012 G
CHM     AU4032306chrX:
85146380-85146380
GAintronicDe 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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