Variant Results

or

or

Results for "MAML2"

Variant Events: 28

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

MAML2

AU061104

chr11:
95785191-95785191

T

C

intronic

De novo

-

-

Yuen2017 G

MAML2

AU3984302

chr11:
95806705-95806705

C

A

intronic

De novo

-

-

Yuen2017 G

MAML2

AU2950302

chr11:
95983749-95983749

A

G

intronic

De novo

-

-

Yuen2017 G

MAML2

AU039305

chr11:
95915150-95915150

A

G

intronic

De novo

-

-

Yuen2017 G

MAML2

2-1567-004

chr11:
95913866-95913866

T

G

intronic

De novo

-

-

Yuen2017 G

MAML2

09C99816

chr11:
95826468-95826468

T

A

exonic

De novo

nonsynonymous SNV

NM_032427

c.A727T

p.T243S

11.7

Fu2022 E

MAML2

2-0116-004

chr11:
96005087-96005087

T

C

intronic

De novo

-

-

Yuen2017 G

MAML2

AU024105

chr11:
96067585-96067585

G

T

intronic

De novo

-

-

Yuen2017 G

MAML2

2-1131-003

chr11:
95877953-95877953

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MAML2

2-0102-004

chr11:
96076664-96076664

A

G

upstream

De novo

-

-

Yuen2017 G

MAML2

Shi2013:2

chr11:
95724805-95724805

T

C

exonic

Inherited

nonsynonymous SNV

NM_032427

c.A2222G

p.Y741C

17.91

Shi2013 G

MAML2

Shi2013:1

chr11:
95724805-95724805

T

C

exonic

Inherited

nonsynonymous SNV

NM_032427

c.A2222G

p.Y741C

17.91

Shi2013 G

MAML2

SP0016143

chr11:
95713087-95713087

C

T

exonic

De novo

synonymous SNV

NM_032427

c.G2496A

p.L832L

-

-

Fu2022 E

MAML2

2-1729-003

chr11:
95887690-95887690

T

A

intronic

De novo

-

-

Yuen2017 G

MAML2

1-0559-004

chr11:
95940524-95940524

C

T

intronic

De novo

-

-

Yuen2017 G

MAML2

1-0627-003

chr11:
95903775-95903775

G

A

intronic

De novo

-

-

Yuen2017 G

MAML2

13045.p1

chr11:
95825380-95825380

C

T

exonic

De novo

synonymous SNV

NM_032427

c.G1815A

p.Q605Q

-

Iossifov2014 E
Kosmicki2017 E

MAML2

2-1105-003

chr11:
96062186-96062186

G

A

intronic

De novo

-

-

Yuen2016 G

MAML2

13023.p1

chr11:
95862825-95862825

T

A

intronic

De novo

-

-

Turner2016 G

MAML2

2-0122-003

chr11:
95899277-95899277

T

TC

intronic

De novo

-

-

Yuen2017 G

MAML2

AU4103301

chr11:
95929353-95929353

G

A

intronic

De novo

-

-

Yuen2017 G

MAML2

2-1339-003

chr11:
96015007-96015007

G

A

intronic

De novo

-

-

Yuen2017 G

MAML2

1-0973-003

chr11:
95764770-95764770

T

A

intronic

De novo

-

-

Yuen2017 G

MAML2

AU2711303

chr11:
95936101-95936101

A

G

intronic

De novo

-

-

Yuen2017 G

MAML2

1310012

chr11:
95724689-95724689

C

T

exonic

De novo

nonsynonymous SNV

NM_032427

c.G2338A

p.D780N

15.39

-

Fu2022 E
Satterstrom2020 E

MAML2

2-1323-003

chr11:
96037268-96037268

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MAML2

1-0295-003

chr11:
95742874-95742874

A

G

intronic

De novo

-

-

Yuen2017 G

MAML2

1-0674-003

chr11:
96082856-96082856

C

T

intergenic

De novo

-

-

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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