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Results for "ZCCHC7"

Variant Events: 15

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
ZCCHC7     AU3874301chr9:
37384358-37384358
CTintergenicDe novo--Yuen2017 G
ZCCHC7     1-0107-003chr9:
37149531-37149531
AGintronicDe novo--Yuen2017 G
ZCCHC7     2-0297-003chr9:
37352115-37352115
ATintronicDe novo--Yuen2017 G
ZCCHC7     1-0665-003chr9:
37387298-37387298
CCTTTTTintergenicDe novo--Yuen2017 G
ZCCHC7     Codina-Sola2015:ASD_5chr9:
37304308-37304308
CTexonicPaternalstopgainNM_001289119
NM_001289120
NM_001289121
NM_032226
c.C778T
c.C778T
c.C778T
c.C778T
p.R260X
p.R260X
p.R260X
p.R260X
20.78.286E-6Codina-Sola2015 E
ZCCHC7     1-0665-003chr9:
37178538-37178542
TAAACTintronicDe novo--Yuen2017 G
ZCCHC7     7-0141-003chr9:
37349841-37349841
GAintronicDe novo--Yuen2017 G
ZCCHC7     AU1668302chr9:
37333379-37333379
CGintronicDe novo--Yuen2017 G
ZCCHC7     2-1086-004chr9:
37255715-37255715
TTCintronicDe novo--Yuen2017 G
ZCCHC7     1-0339-003chr9:
37193207-37193207
AGintronicDe novo--Yuen2017 G
ZCCHC7     AU3903302chr9:
37198701-37198701
CTintronicDe novo--Yuen2017 G
ZCCHC7     AU3846303chr9:
37399420-37399420
GCintergenicDe novo--Yuen2017 G
ZCCHC7     7-0247-003chr9:
37250533-37250533
ACintronicDe novo--Yuen2017 G
ZCCHC7     7-0247-003chr9:
37298843-37298843
AGintronicDe novo--Yuen2017 G
ZCCHC7     AU1223301chr9:
37290926-37290926
TAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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