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Results for "CNTRL"

Variant Events: 12

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
CNTRL     iHART3256chr9:
123924160-123924160
CCAexonicMaternalframeshift insertionNM_007018c.5117dupAp.Q1706fs--Ruzzo2019 G
CNTRL     iHART1921chr9:
123904367-123904367
AGsplicingPaternalsplicing18.339.16E-5Ruzzo2019 G
CNTRL     14153.p1chr9:
123921025-123921025
GAintronicDe novo--Turner2016 G
CNTRL     iHART3255chr9:
123924160-123924160
CCAexonicMaternalframeshift insertionNM_007018c.5117dupAp.Q1706fs--Ruzzo2019 G
CNTRL     SP0031728chr9:
123935966-123935966
GAexonicDe novononsynonymous SNVNM_007018c.G6698Ap.R2233H15.831.0E-4Feliciano2019 E
CNTRL     iHART3252chr9:
123924160-123924160
CCAexonicMaternalframeshift insertionNM_007018c.5117dupAp.Q1706fs--Ruzzo2019 G
CNTRL     14177.p1chr9:
123850589-123850590
TGTUTR5De novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CNTRL     13062.p1chr9:
123927377-123927377
AGexonicDe novosynonymous SNVNM_007018c.A5580Gp.Q1860Q--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CNTRL     7-0023-003chr9:
123911574-123911574
TCintronicDe novo--Yuen2017 G
CNTRL     11194.p1chr9:
123917591-123917591
AGintronicDe novo--Turner2016 G
CNTRL     AU1909304chr9:
123929230-123929230
CTintronicDe novo--Yuen2017 G
CNTRL     AU4235302chr9:
123866807-123866808
AGAintronicDe 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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