Variant Results

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Results for "DESI2"

Variant Events: 18

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

DESI2

2-1306-003

chr1:
244969864-244969864

A

AAGAT

intergenic

De novo

-

-

Yuen2017 G

DESI2

2-0122-003

chr1:
244960367-244960367

T

C

intergenic

De novo

-

-

Yuen2017 G

DESI2

1-0454-003

chr1:
244908208-244908208

C

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DESI2

AU060403

chr1:
244964341-244964341

C

T

intergenic

De novo

-

-

Yuen2017 G

DESI2

DEASD_0061_001

chr1:
244816617-244816617

T

TG

exonic

De novo

frameshift insertion

NM_001297746
NM_016076

c.3dupG
c.3dupG

p.M1fs
p.M1fs

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DESI2

AU4426303

chr1:
244920310-244920335

AATATATATATACATATATATATATA

AATATATATATATACATATATATATATA

intergenic

De novo

-

-

Yuen2017 G

DESI2

AU3861301

chr1:
244986429-244986429

G

C

intergenic

De novo

-

-

Yuen2017 G

DESI2

2-1635-004

chr1:
244957596-244957596

C

T

intergenic

De novo

-

-

Yuen2017 G

DESI2

1-0125-003

chr1:
244951701-244951701

C

G

intergenic

De novo

-

-

Yuen2017 G

DESI2

1-0556-003

chr1:
244880746-244880746

C

T

intergenic

De novo

-

-

Yuen2017 G

DESI2

5-0050-003

chr1:
244956383-244956383

G

A

intergenic

De novo

-

-

Yuen2017 G

DESI2

1-0898-003

chr1:
244951439-244951439

C

T

intergenic

De novo

-

-

Yuen2017 G

DESI2

MSSNG00364-003

chr1:
244864966-244864966

C

G

intronic

De novo

-

-

Trost2022 G

DESI2

AU024607

chr1:
244855171-244855171

G

T

intronic

De novo

-

-

Trost2022 G

DESI2

1-0385-003

chr1:
244876684-244876684

G

A

intergenic

De novo

-

-

Yuen2017 G

DESI2

REACH000476

chr1:
244871654-244871656

AGT

A

UTR3

De novo

-

-

Trost2022 G

DESI2

MSSNG00376-003

chr1:
244827669-244827669

G

A

intronic

De novo

-

-

Trost2022 G

DESI2

REACH000609

chr1:
244823976-244823976

T

A

intronic

De novo

-

-

Trost2022 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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