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Results for "CYTH4"

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
CYTH4     10C102280chr22:
37693679-37693679
CTexonicDe novosynonymous SNVNM_013385c.C309Tp.G103G--Neale2012 E
CYTH4     1-0259-005chr22:
37744391-37744391
TTGintergenicDe novo--Yuen2017 G
CYTH4     AU076704chr22:
37687173-37687173
AGintronicDe novo--Yuen2017 G
CYTH4     1360JS0028chr22:
37693679-37693679
CTexonicDe novosynonymous SNVNM_013385c.C309Tp.G103G--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CYTH4     1-0296-004chr22:
37722107-37722107
GAintergenicDe novo--Yuen2017 G
CYTH4     80001103005chr22:
37692128-37692128
GAintronicDe novo-1.095E-5Satterstrom2020 E
CYTH4     3-0391-000chr22:
37683883-37683883
GTintronicDe 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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