Variant Results

or

or

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

iHART3256

chr9:
123924160-123924160

C

CA

exonic

Maternal

frameshift insertion

NM_007018

c.5117dupA

p.Q1706fs

-

-

Ruzzo2019 G

CNTRL

iHART1921

chr9:
123904367-123904367

A

G

splicing

Paternal

splicing

18.33

Ruzzo2019 G

CNTRL

14153.p1

chr9:
123921025-123921025

G

A

intronic

De novo

-

-

Turner2016 G

CNTRL

iHART3255

chr9:
123924160-123924160

C

CA

exonic

Maternal

frameshift insertion

NM_007018

c.5117dupA

p.Q1706fs

-

-

Ruzzo2019 G

CNTRL

SP0031728

chr9:
123935966-123935966

G

A

exonic

De novo

nonsynonymous SNV

NM_007018

c.G6698A

p.R2233H

15.83

Feliciano2019 E

CNTRL

iHART3252

chr9:
123924160-123924160

C

CA

exonic

Maternal

frameshift insertion

NM_007018

c.5117dupA

p.Q1706fs

-

-

Ruzzo2019 G

CNTRL

14177.p1

chr9:
123850589-123850590

TG

T

UTR5

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CNTRL

13062.p1

chr9:
123927377-123927377

A

G

exonic

De novo

synonymous SNV

NM_007018

c.A5580G

p.Q1860Q

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CNTRL

7-0023-003

chr9:
123911574-123911574

T

C

intronic

De novo

-

-

Yuen2017 G

CNTRL

11194.p1

chr9:
123917591-123917591

A

G

intronic

De novo

-

-

Turner2016 G

CNTRL

AU1909304

chr9:
123929230-123929230

C

T

intronic

De novo

-

-

Yuen2017 G

CNTRL

AU4235302

chr9:
123866807-123866808

AG

A

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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