Variant Results

or

Results for "MGAT4C"

Variant Events: 92

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

MGAT4C

2-1379-003

chr12:
88107660-88107660

T

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1644-003

chr12:
87466365-87466365

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

14590.p1

chr12:
87994215-87994215

C

T

intergenic

De novo

-

Turner2016 G

MGAT4C

1-0219-003

chr12:
86435480-86435480

C

G

intronic

De novo

-

Yuen2017 G

MGAT4C

13324.p1

chr12:
86812796-86812796

G

A

intronic

De novo

-

Turner2016 G

MGAT4C

2-0242-003

chr12:
86749652-86749652

C

G

intronic

De novo

-

Yuen2017 G

MGAT4C

5-0109-003

chr12:
87342579-87342579

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1738-003

chr12:
87901383-87901383

C

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

5-0077-003

chr12:
86679960-86679960

T

TTAATAATA

intronic

De novo

-

Yuen2017 G

MGAT4C

AU4235303

chr12:
86855906-86855906

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

2-1166-003

chr12:
87866136-87866136

C

T

intergenic

De novo

-

Yuen2016 G

MGAT4C

AU3794302

chr12:
87665148-87665148

A

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU4242302

chr12:
87304462-87304462

A

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1486-003

chr12:
87888327-87888327

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

5-0148-003

chr12:
86494227-86494227

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

2-1152-003

chr12:
87605725-87605725

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

7-0068-003

chr12:
87368064-87368064

C

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1093-009

chr12:
86503233-86503233

A

G

intronic

De novo

-

Yuen2017 G

MGAT4C

AU4314302

chr12:
86730074-86730074

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

AU3638302

chr12:
88045259-88045259

C

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0625-003

chr12:
87924261-87924261

C

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU4056301

chr12:
87280502-87280502

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0358-003

chr12:
87701593-87701593

A

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU0146301

chr12:
87062767-87062768

GC

G

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0668-003

chr12:
87822634-87822634

G

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1437-003

chr12:
87712137-87712137

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

7-0256-003

chr12:
87510058-87510058

T

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0481-003

chr12:
88031464-88031464

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU047704

chr12:
86960520-86960520

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0352-005

chr12:
87811904-87811904

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1290-003

chr12:
88100761-88100761

T

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU038703

chr12:
87058466-87058466

A

T

intronic

De novo

-

Yuen2017 G

MGAT4C

AU047704

chr12:
88053225-88053225

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU3905302

chr12:
88131857-88131857

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0352-005

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

MGAT4C

AU2019302

chr12:
86661120-86661120

C

T

intronic

De novo

-

Yuen2017 G

MGAT4C

AU4129303

chr12:
86809370-86809370

A

G

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0289-004

chr12:
86685261-86685262

CT

C

intronic

De novo

-

Yuen2017 G

MGAT4C

AU2427302

chr12:
86391481-86391481

C

G

intronic

De novo

-

Yuen2017 G

MGAT4C

AU051503

chr12:
86949545-86949545

G

C

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0181-004

chr12:
87252897-87252897

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

14666.p1

chr12:
86373419-86373419

C

T

exonic

De novo

nonsynonymous SNV

NM_013244

c.G1085A

p.S362N

16.72

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MGAT4C

2-1167-003

chr12:
87680350-87680350

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

2-1266-003

chr12:
88163755-88163755

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

3-0439-000

chr12:
87537928-87537928

A

G

intergenic

De novo

-

Yuen2016 G

MGAT4C

2-1645-003

chr12:
87556818-87556818

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0244-003

chr12:
87981578-87981578

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

2-1333-003

chr12:
87712452-87712452

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0173-004

chr12:
88162946-88162946

G

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1292-004

chr12:
87582563-87582583

ACATTACCAAAGAGCAAAATG

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

5-0138-003

chr12:
87541703-87541703

C

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1117-003

chr12:
87625352-87625352

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

7-0100-003

chr12:
87263747-87263747

T

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU3794301

chr12:
87632546-87632562

TTCTCTCTCTCTCTCTC

TTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU3794301

chr12:
87701184-87701184

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1358-003

chr12:
87727128-87727128

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1506-003

chr12:
87264729-87264729

A

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU2975302

chr12:
87945637-87945637

G

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0352-003

chr12:
87811904-87811904

T

C

intergenic

De novo

-

Yuen2016 G

MGAT4C

AU4228301

chr12:
87468916-87468927

ACCTCCTCCTCC

ACCTCCTCCTCCTCC

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1461-003

chr12:
86996263-86996263

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

1-0257-003

chr12:
87524671-87524671

G

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-0116-004

chr12:
87150248-87150248

T

A

intronic

De novo

-

Yuen2017 G

MGAT4C

5-0095-003

chr12:
87080965-87080965

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

Lim2017:37338

chr12:
86373419-86373419

C

T

exonic

De novo

nonsynonymous SNV

NM_013244

c.G1085A

p.S362N

16.72

-

Lim2017 E

MGAT4C

1-0656-003

chr12:
87368478-87368482

CAAAA

CAAAAA

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU3724301

chr12:
87540963-87540963

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0777-003

chr12:
87680281-87680281

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1164-003

chr12:
87911179-87911179

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

1-0257-003

chr12:
87524677-87524677

A

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0820-003

chr12:
86833828-86833828

G

C

intronic

De novo

-

Yuen2017 G

MGAT4C

AU3680301

chr12:
86491911-86491911

T

A

intronic

De novo

-

Yuen2017 G

MGAT4C

7-0082-003

chr12:
87073168-87073168

A

C

intronic

De novo

-

Yuen2017 G

MGAT4C

3-0456-000B

chr12:
86997008-86997018

ATATATTATAT

ATATAT

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0067-004

chr12:
87833670-87833670

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU3807302

chr12:
86612399-86612399

T

C

intronic

De novo

-

Yuen2017 G

MGAT4C

AU3861303

chr12:
87022195-87022195

A

T

intronic

De novo

-

Yuen2017 G

MGAT4C

2-1428-003

chr12:
87706803-87706803

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

AU046707

chr12:
88140089-88140089

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU4033304

chr12:
87316562-87316562

G

A

intergenic

De novo

-

Yuen2017 G

MGAT4C

AU4168306

chr12:
87940415-87940415

A

G

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0142-005

chr12:
87390834-87390834

A

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

1-0142-005

chr12:
86826022-86826022

G

GA

intronic

De novo

-

Yuen2017 G

MGAT4C

3-0111-000

chr12:
87166264-87166264

A

G

intronic

De novo

-

Yuen2016 G

MGAT4C

37338

chr12:
86373419-86373419

C

T

exonic

De novo

nonsynonymous SNV

NM_013244

c.G1085A

p.S362N

16.72

-

Fu2022 E

MGAT4C

1-0756-005

chr12:
88127481-88127481

T

C

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-0278-003

chr12:
87496655-87496655

A

T

intergenic

De novo

-

Yuen2017 G

MGAT4C

2-1337-003

chr12:
87283516-87283516

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

2-1155-003

chr12:
87226812-87226812

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MGAT4C

AU000704

chr12:
86852494-86852494

C

T

intronic

De novo

-

Yuen2017 G

MGAT4C

1-0699-003

chr12:
87083863-87083863

G

A

intronic

De novo

-

Yuen2017 G

MGAT4C

AU050910

chr12:
87383938-87383938

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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