Variant Results

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Results for "DAP"

Variant Events: 23

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

DAP

mAGRE2940

chr5:
10681267-10681268

GA

G

exonic

Paternal

frameshift deletion

NM_001291963
NM_004394

c.166delT
c.209delT

p.S56fs
p.F70fs

-

Cirnigliaro2023 G

DAP

PN400157

chr5:
10683641-10683641

C

T

exonic

De novo

synonymous SNV

NM_004394

c.G195A

p.R65R

-

-

Leblond2019 E

DAP

2-1302-003

chr5:
10839253-10839253

C

A

intergenic

De novo

-

-

Yuen2017 G

DAP

AU2140305

chr5:
10756726-10756726

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAP

iHART2940

chr5:
10681267-10681268

GA

G

exonic

Paternal

frameshift deletion

NM_001291963
NM_004394

c.166delT
c.209delT

p.S56fs
p.F70fs

-

Ruzzo2019 G

DAP

MSSNG00422-004

chr5:
10695416-10695416

C

T

intronic

De novo

-

-

Trost2022 G

DAP

AU3808304

chr5:
10721890-10721890

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAP

4-0008-003

chr5:
10713914-10713914

A

G

intronic

De novo

-

-

Trost2022 G

DAP

7-0094-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

DAP

4-0077-003

chr5:
10684315-10684315

A

G

intronic

De novo

-

-

Trost2022 G

DAP

14153.p1

chr5:
10750196-10750196

T

C

intronic

De novo

-

-

Turner2016 G

DAP

11456.p1

chr5:
10768231-10768231

A

G

intergenic

De novo

-

-

Turner2016 G

DAP

2-0012-003

chr5:
10760169-10760169

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAP

2-1086-004

chr5:
10762282-10762283

TA

T

upstream

De novo

-

-

Trost2022 G

DAP

AU3190305

chr5:
10905340-10905340

C

A

intergenic

De novo

-

-

Yuen2017 G

DAP

SJD_79.3

chr5:
10730786-10730786

G

A

intronic

De novo

-

-

Trost2022 G

DAP

1-0998-003

chr5:
10843246-10843246

G

C

intergenic

De novo

-

-

Yuen2017 G

DAP

1-1195-003

chr5:
10738467-10738467

T

C

intronic

De novo

-

-

Trost2022 G

DAP

3-0661-000

chr5:
10925514-10925514

C

A

intergenic

De novo

-

-

Yuen2017 G

DAP

MT_30.3

chr5:
10715737-10715737

A

C

intronic

De novo

-

-

Trost2022 G

DAP

2-1519-006

chr5:
10718798-10718798

T

C

intronic

De novo

-

-

Trost2022 G

DAP

1-0479-006

chr5:
10901058-10901058

T

C

intergenic

De novo

-

-

Yuen2017 G

DAP

1-0041-003

chr5:
10773267-10773267

T

G

intergenic

De novo

-

-

Yuen2016 G
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 notes	View
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