Variant Results

or

Results for "MDGA2"

Variant Events: 95

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

MDGA2

5-5021-003

chr14:
47899603-47899603

G

C

intronic

De novo

-

Trost2022 G

MDGA2

7-0298-003

chr14:
47905980-47905980

C

T

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00013-003

chr14:
47872055-47872055

C

T

intronic

De novo

-

Trost2022 G

MDGA2

REACH000073

chr14:
47877288-47877288

C

T

intronic

De novo

-

Trost2022 G

MDGA2

L7H6W_01

chr14:
47815558-47815559

CT

C

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00421-006

chr14:
47867703-47867703

T

C

intronic

De novo

-

Trost2022 G

MDGA2

1-1120-003

chr14:
47801680-47801680

G

C

intronic

De novo

-

Trost2022 G

MDGA2

2-1252-003

chr14:
47436232-47436233

CA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

AU2320301

chr14:
47811589-47811589

A

C

intronic

De novo

-

Trost2022 G

MDGA2

3-0607-000

chr14:
48048077-48048077

A

AT

intronic

De novo

-

Trost2022 G

MDGA2

REACH000626

chr14:
48058126-48058126

T

C

intronic

De novo

-

Trost2022 G

MDGA2

AU046506

chr14:
48029670-48029670

A

G

intronic

De novo

-

Trost2022 G

MDGA2

MT_151.4

chr14:
48037009-48037009

C

G

intronic

De novo

-

Trost2022 G

MDGA2

4-0040-003

chr14:
47994744-47994744

C

T

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00008-004

chr14:
48025456-48025456

A

G

intronic

De novo

-

Trost2022 G

MDGA2

2-0296-004

chr14:
47627544-47627544

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

AU2729301

chr14:
47977379-47977379

C

A

intronic

De novo

-

Trost2022 G

MDGA2

7-0103-003

chr14:
47481785-47481785

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0760-003

chr14:
47986513-47986513

A

G

intronic

De novo

-

Trost2022 G

MDGA2

7-0080-003

chr14:
47342255-47342256

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

3-0185-000

chr14:
47943954-47943954

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0197-003

chr14:
47905738-47905738

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

SP0139737

chr14:
47613278-47613278

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MDGA2

5-5015-003

chr14:
48070471-48070471

G

A

intronic

De novo

-

Trost2022 G

MDGA2

2-1619-004

chr14:
47971925-47971925

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-1204-004

chr14:
48138942-48138942

T

C

intronic

De novo

-

Trost2022 G

MDGA2

mAGRE2726

chr14:
48143988-48143988

C

CCACACACTCATGCACAAACACACTCA

UTR5

Maternal

-

Cirnigliaro2023 G

MDGA2

09C81083

chr14:
47311217-47311217

C

T

exonic

De novo

nonsynonymous SNV

NM_001113498
NM_182830

c.G2788A
c.G2101A

p.V930I
p.V701I

9.385

3.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MDGA2

mAGRE1905

chr14:
48143825-48143829

GGGTA

G

UTR5

Paternal

-

Cirnigliaro2023 G

MDGA2

mAGRE1901

chr14:
48143825-48143829

GGGTA

G

UTR5

Paternal

-

Cirnigliaro2023 G

MDGA2

2-0309-005

chr14:
48029089-48029089

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

AU3725302

chr14:
47683730-47683730

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

iHART1905

chr14:
48143825-48143829

GGGTA

G

UTR5

Paternal

-

Ruzzo2019 G

MDGA2

iHART1901

chr14:
48143825-48143829

GGGTA

G

UTR5

Paternal

-

Ruzzo2019 G

MDGA2

7-0249-004

chr14:
47821620-47821620

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

iHART2726

chr14:
48143988-48143988

C

CCACACACTCATGCACAAACACACTCA

UTR5

Maternal

-

Ruzzo2019 G

MDGA2

A26

chr14:
48042611-48042611

T

C

intronic

De novo

-

Wu2018 G

MDGA2

AU3809302

chr14:
47667086-47667086

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0668-003

chr14:
48051274-48051274

C

A

intronic

De novo

-

Yuen2017 G

MDGA2

5-0084-003

chr14:
47481585-47481585

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

2-1290-003

chr14:
48052535-48052535

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0104-003

chr14:
47894884-47894884

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0104-003

chr14:
47324053-47324053

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

5-0025-003

chr14:
47393952-47393952

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0498-003

chr14:
47577656-47577656

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

2-0309-004

chr14:
47784321-47784333

TAGTTTATTTCTA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

2-1502-003

chr14:
47360600-47360600

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

7-0095-003

chr14:
47847435-47847435

G

A

intronic

De novo

-

Yuen2017 G

MDGA2

1-0551-003

chr14:
47694213-47694215

CTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

AU0452303

chr14:
47889135-47889135

T

C

intronic

De novo

-

Yuen2017 G

MDGA2

2-0256-004

chr14:
47592315-47592315

G

GT

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0357-003

chr14:
47570251-47570251

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

13290.p1

chr14:
47770803-47770803

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MDGA2

2-0003-004

chr14:
47662781-47662781

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

13515.p1

chr14:
47526626-47526626

T

C

intronic

De novo

-

Turner2016 G

MDGA2

2-1261-004

chr14:
47871931-47871931

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-0263-003

chr14:
48179908-48179911

TTCA

T

intergenic

De novo

-

Yuen2016 G

MDGA2

1-1167-003

chr14:
47339991-47339991

G

A

intronic

De novo

-

Trost2022 G

MDGA2

7-0333-003

chr14:
47352689-47352689

T

C

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00421-007

chr14:
47332132-47332132

T

C

intronic

De novo

-

Trost2022 G

MDGA2

AU059003

chr14:
47337503-47337503

A

T

intronic

De novo

-

Trost2022 G

MDGA2

1-0375-003

chr14:
47690431-47690431

G

A

intronic

De novo

-

Yuen2017 G

MDGA2

AU4468301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

1-1102-003

chr14:
47584085-47584085

C

T

intronic

De novo

-

Trost2022 G

MDGA2

5-0009-003

chr14:
47593173-47593173

T

G

intronic

De novo

-

Trost2022 G

MDGA2

AU2310301

chr14:
47461292-47461292

A

T

intronic

De novo

-

Trost2022 G

MDGA2

AU004403

chr14:
47472879-47472879

C

A

intronic

De novo

-

Trost2022 G

MDGA2

4-0073-003

chr14:
47386032-47386033

TC

AA

intronic

De novo

-

Trost2022 G

MDGA2

7-0071-003

chr14:
47459466-47459466

T

A

intronic

De novo

-

Trost2022 G

MDGA2

2-1480-003

chr14:
47465310-47465310

G

A

intronic

De novo

-

Yuen2016 G

MDGA2

AU3787302

chr14:
47354286-47354286

A

C

intronic

De novo

-

Trost2022 G

MDGA2

MT_18.3

chr14:
47383342-47383342

C

T

intronic

De novo

-

Trost2022 G

MDGA2

2-1784-003

chr14:
47677520-47677524

AATAC

A

intronic

De novo

-

Trost2022 G

MDGA2

1-0556-003

chr14:
47445378-47445378

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

AU4356302

chr14:
47962319-47962319

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

SP0008442

chr14:
47343391-47343391

C

A

exonic

De novo

nonsynonymous SNV

NM_001113498
NM_182830

c.G2243T
c.G1556T

p.C748F
p.C519F

14.29

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

MDGA2

7-0327-003

chr14:
47707824-47707824

T

C

intronic

De novo

-

Trost2022 G

MDGA2

REACH000564

chr14:
47647773-47647773

C

G

intronic

De novo

-

Trost2022 G

MDGA2

1-1020-003A

chr14:
47659835-47659835

A

G

intronic

De novo

-

Trost2022 G

MDGA2

AU004403

chr14:
47642563-47642563

A

C

intronic

De novo

-

Trost2022 G

MDGA2

AU4033304

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

REACH000678

chr14:
47643443-47643443

G

A

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00008-003

chr14:
47601745-47601745

A

G

intronic

De novo

-

Trost2022 G

MDGA2

3-0202-000

chr14:
47641326-47641326

C

T

intronic

De novo

-

Trost2022 G

MDGA2

AU2717301

chr14:
47786846-47786846

G

A

intronic

De novo

-

Trost2022 G

MDGA2

3-0489-000

chr14:
47800305-47800305

G

A

intronic

De novo

-

Trost2022 G

MDGA2

AU0146302

chr14:
47763415-47763415

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

3-0059-000

chr14:
47768626-47768626

A

G

intronic

De novo

-

Trost2022 G

MDGA2

AU3051303

chr14:
47595143-47595145

CAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

MSSNG00221-003

chr14:
47778573-47778573

T

C

intronic

De novo

-

Trost2022 G

MDGA2

REACH000446

chr14:
47734092-47734092

G

A

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00389-003

chr14:
47745092-47745092

G

C

intronic

De novo

-

Trost2022 G

MDGA2

AU3760301

chr14:
47427465-47427465

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDGA2

3-0416-000

chr14:
47719433-47719433

C

G

intronic

De novo

-

Trost2022 G

MDGA2

MSSNG00368-003

chr14:
47732822-47732822

T

C

intronic

De novo

-

Trost2022 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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