Variant Results

or

Results for "MEMO1"

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

MEMO1

1-0549-003

chr2:
32148416-32148416

T

C

intronic

De novo

-

Trost2022 G

MEMO1

MSSNG00389-003

chr2:
32148290-32148290

G

A

intronic

De novo

-

Trost2022 G

MEMO1

AU2140306

chr2:
32095108-32095108

C

T

intronic

De novo

-

Yuen2017 G

MEMO1

AU2437302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MEMO1

MT_44.3

chr2:
32197534-32197534

C

T

intronic

De novo

-

Trost2022 G

MEMO1

AU3730301

chr2:
32203812-32203812

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MEMO1

MSSNG00111-003

chr2:
32187218-32187218

G

A

intronic

De novo

-

Trost2022 G

MEMO1

2-1415-004

chr2:
32239272-32239272

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

MEMO1

3-0407-000

chr2:
32136681-32136681

C

T

intronic

De novo

-

Trost2022 G

MEMO1

4-0028-003

chr2:
32113291-32113291

C

A

intronic

De novo

-

Trost2022 G

MEMO1

2-0088-003

chr2:
32203301-32203301

C

CA

intronic

De novo

-

Trost2022 G
Yuen2017 G

MEMO1

2-1467-003

chr2:
32217963-32217963

T

C

intronic

De novo

-

Trost2022 G

MEMO1

AU031204

chr2:
32207119-32207119

A

G

intronic

De novo

-

Trost2022 G

MEMO1

MSSNG00158-003

chr2:
32231816-32231816

A

G

intronic

De novo

-

Trost2022 G

MEMO1

SSC08980

chr2:
32168370-32168370

C

T

splicing

De novo

splicing

15.93

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

MEMO1

AU2410301

chr2:
32197846-32197846

C

A

intronic

De novo

-

Yuen2017 G

MEMO1

13630.p1

chr2:
32168370-32168370

C

T

splicing

De novo

splicing

15.93

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MEMO1

AU069603

chr2:
32231475-32231475

A

T

intronic

De novo

-

Trost2022 G
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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