Variant Results

or

Results for "DIEXF"

Variant Events: 13

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

DIEXF

AU047904

chr1:
210006175-210006175

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DIEXF

AU076508

chr1:
210023784-210023784

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DIEXF

3-0709-000

chr1:
210022321-210022321

G

T

intronic

De novo

-

Trost2022 G

DIEXF

REACH000405

chr1:
210029476-210029476

G

A

UTR3

De novo

-

Trost2022 G

DIEXF

MSSNG00227-003

chr1:
210023662-210023662

A

G

intronic

De novo

-

Trost2022 G

DIEXF

AU018010

chr1:
210064683-210064683

A

G

intergenic

De novo

-

Yuen2017 G

DIEXF

iHART2202

chr1:
210001414-210001414

C

CG

exonic

Paternal

frameshift insertion

NM_014388

c.6_7insG

p.G2fs

-

Ruzzo2019 G

DIEXF

AU1542303

chr1:
210001414-210001414

C

CG

exonic

Paternal

frameshift insertion

NM_014388

c.6_7insG

p.G2fs

-

Cirnigliaro2023 G

DIEXF

iHART2200

chr1:
210001414-210001414

C

CG

exonic

Paternal

frameshift insertion

NM_014388

c.6_7insG

p.G2fs

-

Ruzzo2019 G

DIEXF

AU1542301

chr1:
210001414-210001414

C

CG

exonic

Paternal

frameshift insertion

NM_014388

c.6_7insG

p.G2fs

-

Cirnigliaro2023 G

DIEXF

14637.p1

chr1:
210014329-210014329

C

T

exonic

De novo

synonymous SNV

NM_014388

c.C1414T

p.L472L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G
Zhou2022 GE

DIEXF

AU4197302

chr1:
210039667-210039667

G

A

intergenic

De novo

-

Yuen2017 G

DIEXF

DEASD_0100_001

chr1:
210016834-210016834

G

A

exonic

De novo

nonsynonymous SNV

NM_014388

c.G1820A

p.R607H

21.7

4.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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
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