Variant Results

or

Results for "MAST2"

Variant Events: 20

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

MAST2

2-1148-004

chr1:
46358026-46358026

T

C

intronic

De novo

-

Yuen2017 G

MAST2

13964.p1

chr1:
46296458-46296458

T

G

intronic

De novo

-

Turner2016 G

MAST2

AU2019302

chr1:
46417357-46417357

T

C

intronic

De novo

-

Yuen2017 G

MAST2

G01-GEA-134-HI

chr1:
46497134-46497134

G

T

exonic

De novo

nonsynonymous SNV

NM_015112

c.G3064T

p.A1022S

31.0

-

Satterstrom2020 E

MAST2

2-1112-003

chr1:
46438850-46438850

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAST2

AU4496301

chr1:
46343359-46343361

GTT

GT

intronic

De novo

-

Yuen2017 G

MAST2

2-1350-004

chr1:
46450674-46450678

TAAAC

T

intronic

De novo

-

Yuen2017 G

MAST2

2-1357-004

chr1:
46421929-46421929

A

G

intronic

De novo

-

Yuen2017 G

MAST2

iHART1277

chr1:
46496412-46496412

G

A

exonic

Paternal

stopgain

NM_015112

c.G2687A

p.W896X

41.0

-

Ruzzo2019 G

MAST2

iHART2999

chr1:
46499570-46499570

C

T

exonic

Paternal

stopgain

NM_015112

c.C3634T

p.R1212X

44.0

8.325E-6

Ruzzo2019 G

MAST2

iHART2131

chr1:
46496749-46496749

C

T

exonic

Maternal

stopgain

NM_015112

c.C2779T

p.R927X

42.0

1.679E-5

Ruzzo2019 G

MAST2

AU3891302

chr1:
46350372-46350372

T

C

intronic

De novo

-

Yuen2017 G

MAST2

1-0486-003

chr1:
46271780-46271780

T

A

intronic

De novo

-

Yuen2017 G

MAST2

3-0396-000

chr1:
46292702-46292702

A

G

intronic

De novo

-

Yuen2016 G

MAST2

13869.p1

chr1:
46498050-46498050

G

A

exonic

De novo

nonsynonymous SNV

NM_015112

c.G3388A

p.V1130I

11.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

MAST2

AU1355301

chr1:
46370026-46370026

A

G

intronic

De novo

-

Yuen2017 G

MAST2

DEASD_0048_001

chr1:
46500523-46500523

G

A

exonic

De novo

synonymous SNV

NM_015112

c.G4182A

p.A1394A

-

1.661E-5

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MAST2

DEASD_0426_001

chr1:
46501219-46501219

A

G

exonic

De novo

synonymous SNV

NM_015112

c.A4878G

p.A1626A

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MAST2

iHART2997

chr1:
46499570-46499570

C

T

exonic

Paternal

stopgain

NM_015112

c.C3634T

p.R1212X

44.0

8.325E-6

Ruzzo2019 G

MAST2

SSC09204

chr1:
46498050-46498050

G

A

exonic

De novo

nonsynonymous SNV

NM_015112

c.G3388A

p.V1130I

11.8

-

Lim2017 E

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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