Variant Results

or

Results for "MAT2B"

Variant Events: 45

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

MAT2B

11572.p1

chr5:
163615275-163615275

G

A

intergenic

De novo

-

Turner2016 G

MAT2B

2-1251-003

chr5:
163557287-163557287

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0820-003

chr5:
163810397-163810397

A

G

intergenic

De novo

-

Yuen2017 G

MAT2B

AU4159301

chr5:
163811506-163811506

T

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3716301

chr5:
163012877-163012877

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3905302

chr5:
163874113-163874113

A

C

intergenic

De novo

-

Yuen2017 G

MAT2B

7-0135-003

chr5:
163446220-163446220

G

C

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1734-003

chr5:
163138892-163138892

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0863-003

chr5:
163368465-163368465

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

AU031203

chr5:
163041256-163041256

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3649304

chr5:
163386871-163386871

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1246-003

chr5:
163037566-163037566

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

SP0165766

chr5:
162944588-162944588

T

A

exonic

De novo

nonsynonymous SNV

NM_013283
NM_182796

c.T742A
c.T709A

p.F248I
p.F237I

23.4

-

Trost2022 G

MAT2B

1-0763-004

chr5:
163259121-163259121

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3779301

chr5:
163291048-163291048

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0171-005

chr5:
163373202-163373202

A

G

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0403-003

chr5:
163162224-163162224

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1235-003

chr5:
163169132-163169132

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0354-003

chr5:
163676711-163676715

TATAG

T

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0253-005

chr5:
163368704-163368704

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

7-0143-003

chr5:
163071003-163071003

A

C

intergenic

De novo

-

Yuen2017 G

MAT2B

AU4089302

chr5:
163525939-163525939

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU4356302

chr5:
163073400-163073400

C

G

intergenic

De novo

-

Yuen2017 G

MAT2B

A4

chr5:
163560947-163560947

A

G

intergenic

De novo

-

Wu2018 G

MAT2B

AU4154303

chr5:
163358155-163358155

T

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU046703

chr5:
163446644-163446644

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1093-005

chr5:
163665157-163665157

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1210-003

chr5:
163687938-163687938

A

G

intergenic

De novo

-

Yuen2017 G

MAT2B

AU4483301

chr5:
163307686-163307686

G

T

intergenic

De novo

-

Yuen2017 G

MAT2B

AU4483301

chr5:
163308768-163308768

A

G

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0715-003

chr5:
163169244-163169244

T

A

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3875301

chr5:
163321569-163321569

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

3-0134-000

chr5:
163120105-163120105

A

G

intergenic

De novo

-

Yuen2017 G

MAT2B

2-0296-004

chr5:
162967930-162967930

T

C

intergenic

De novo

-

Yuen2017 G

MAT2B

AU3811301

chr5:
163148633-163148633

T

G

intergenic

De novo

-

Yuen2017 G

MAT2B

3-0065-000

chr5:
163504556-163504556

A

C

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1357-003

chr5:
163665269-163665269

G

A

intergenic

De novo

-

Yuen2017 G

MAT2B

3-0442-000

chr5:
163803070-163803070

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAT2B

2-1460-003

chr5:
163818894-163818894

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1267-003

chr5:
163844229-163844229

C

G

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1116-003

chr5:
163456932-163456932

C

T

intergenic

De novo

-

Yuen2017 G

MAT2B

2-1152-003

chr5:
163629388-163629388

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAT2B

2-1352-003

chr5:
163463854-163463854

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAT2B

2-0242-004

chr5:
163842543-163842543

G

T

intergenic

De novo

-

Yuen2017 G

MAT2B

1-0485-003

chr5:
163359769-163359769

G

A

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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