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Results for "CNST"

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
CNST     1-0295-003chr1:
246739263-246739272
CGCGCCTGTACintronicDe novo--Yuen2017 G
CNST     1-0896-003chr1:
246745342-246745342
ATintronicDe novo--Yuen2017 G
CNST     2-0122-004chr1:
246808747-246808747
TTTTGintronicDe novo--Yuen2017 G
CNST     2-1383-003chr1:
246833617-246833617
GAintergenicDe novo--Yuen2017 G
CNST     2-1300-003chr1:
246757579-246757579
GTintronicDe novo--Yuen2017 G
CNST     2-1525-003chr1:
246828750-246828750
GAintronicDe novo--Yuen2017 G
CNST     5-0103-003chr1:
246853426-246853426
CTintergenicDe novo--Yuen2017 G
CNST     1-0045-004chr1:
246739369-246739369
CTintronicDe novo--Yuen2017 G
CNST     1-0271-004chr1:
246806148-246806148
TTGATGAGintronicDe novo--Yuen2017 G
CNST     11346.p1chr1:
246754937-246754937
GAexonicDe novononsynonymous SNVNM_001139459
NM_152609
c.G73A
c.G73A
p.V25M
p.V25M
12.131.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
CNST     1-0299-004chr1:
246743810-246743810
ATintronicDe novo--Yuen2017 G
CNST     2-1343-003chr1:
246810623-246810623
CTexonicDe novononsynonymous SNVNM_001139459
NM_152609
c.C1120T
c.C1120T
p.H374Y
p.H374Y
19.96-Yuen2016 G
Yuen2017 G
CNST     5-0133-003chr1:
246816125-246816125
TAintronicDe novo--Yuen2017 G
CNST     2-1339-003chr1:
246814641-246814641
GAintronicDe novo--Yuen2017 G
CNST     AU4164301chr1:
246783151-246783154
CATGCintronicDe 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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