Variant Results

or

or

Results for "MYT1"

Variant Events: 19

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

MYT1

2-1346-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

MYT1

13370.p1

chr20:
62863620-62863620

G

A

exonic

nonsynonymous SNV

NM_004535

c.G2779A

p.G927R

20.7

-

Zhou2022 GE

MYT1

AU0638302

chr20:
62841778-62841778

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MYT1

SP0004721

chr20:
62848672-62848672

T

A

intronic

De novo

-

-

Fu2022 E

MYT1

2047-24322

chr20:
62836451-62836451

G

T

splicing

Inherited

splicing

24.6

-

Callaghan2019 G

MYT1

14590.p1

chr20:
62841670-62841670

C

T

intronic

De novo

-

-

Turner2016 G

MYT1

AU3808305

chr20:
62875156-62875156

C

T

intergenic

De novo

-

-

Yuen2017 G

MYT1

SP0087104

chr20:
62871322-62871322

G

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MYT1

SP0006954

chr20:
62858854-62858854

C

T

intronic

De novo

-

-

Fu2022 E

MYT1

MT_167.3

chr20:
62867642-62867642

C

G

intronic

De novo

-

-

Trost2022 G

MYT1

MT_167.3

chr20:
62867637-62867637

C

A

intronic

De novo

-

-

Trost2022 G

MYT1

1029

chr20:
62866300-62866300

G

T

intronic

De novo

-

-

Trost2022 G

MYT1

SP0025876

chr20:
62831337-62831337

C

CAAGAAGACCCCGTTTGGGACATTTAGGA

intronic

De novo

-

-

Fu2022 E

MYT1

3-0775-000

chr20:
62798823-62798823

T

G

intronic

De novo

-

-

Trost2022 G

MYT1

DEASD_1079_001

chr20:
62839734-62839734

C

G

exonic

De novo

synonymous SNV

NM_004535

c.C1185G

p.V395V

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYT1

SP0046803

chr20:
62848583-62848583

A

G

exonic

De novo

nonsynonymous SNV

NM_004535

c.A1795G

p.M599V

9.329

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYT1

MSSNG00056-003

chr20:
62848633-62848633

A

G

exonic

De novo

synonymous SNV

NM_004535

c.A1845G

p.Q615Q

-

-

Trost2022 G
Zhou2022 GE

MYT1

Codina-Sola2015:ASD_32

chr20:
62839407-62839410

AGAG

A

exonic

Paternal

nonframeshift deletion

NM_004535

c.859_861del

p.287_287del

-

Codina-Sola2015 E

MYT1

AU3646301

chr20:
62834320-62834320

C

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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