Variant Results

or

Results for "MAN2A1"

Variant Events: 33

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

MAN2A1

12011.p1

chr5:
109212348-109212348

C

T

intergenic

De novo

-

Turner2016 G

MAN2A1

12011.p1

chr5:
109216779-109216779

C

G

intergenic

De novo

-

Turner2016 G

MAN2A1

1-0640-003

chr5:
109036816-109036816

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

AU2427301

chr5:
109107769-109107770

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

2-0143-004

chr5:
109050996-109050996

A

ATTTTTTTTGTTTTTTGTTTTT

intronic

De novo

-

Yuen2017 G

MAN2A1

AU0780302

chr5:
109051085-109051085

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

AU3051302

chr5:
109068338-109068338

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

2-1363-003

chr5:
109214153-109214153

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAN2A1

2-1437-004

chr5:
109062173-109062173

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

111310

chr5:
109183455-109183455

T

G

exonic

nonsynonymous SNV

NM_002372

c.T2940G

p.F980L

26.9

1.0E-4

Woodbury-Smith2022 E

MAN2A1

2-0022-004

chr5:
109159362-109159366

CATAT

CAT

intronic

De novo

-

Yuen2017 G

MAN2A1

14031.p1

chr5:
109134140-109134140

A

G

intronic

De novo

-

Werling2018 G

MAN2A1

2-1375-003

chr5:
109075935-109075935

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MAN2A1

SP0062312

chr5:
109155966-109155966

C

T

exonic

stopgain

NM_002372

c.C2374T

p.Q792X

45.0

-

Zhou2022 GE

MAN2A1

2-0057-004

chr5:
109110501-109110501

A

G

exonic

De novo

synonymous SNV

NM_002372

c.A1209G

p.L403L

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MAN2A1

AU3610302

chr5:
109112605-109112605

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

12741.p1

chr5:
109153182-109153182

A

C

intronic

De novo

-

3.0E-4

Satterstrom2020 E

MAN2A1

1-0144-004

chr5:
109057685-109057685

A

ATGTGGGAGGG

intronic

De novo

-

Trost2022 G

MAN2A1

1-0923-003

chr5:
109206264-109206264

T

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

MT_165.3

chr5:
109061004-109061004

G

C

intronic

De novo

-

Trost2022 G

MAN2A1

4-0039-003

chr5:
109050991-109050992

TT

CGGCC

intronic

De novo

-

Trost2022 G

MAN2A1

4-0081-003

chr5:
109180700-109180700

T

C

intronic

De novo

-

Trost2022 G

MAN2A1

SP0240217

chr5:
109200786-109200786

G

C

exonic

De novo

nonsynonymous SNV

NM_002372

c.G3221C

p.G1074A

9.572

-

Trost2022 G

MAN2A1

mAGRE5096

chr5:
109153008-109153008

C

T

exonic

Maternal

stopgain

NM_002372

c.C1978T

p.R660X

49.0

-

Cirnigliaro2023 G

MAN2A1

MSSNG00433-003

chr5:
109163728-109163728

C

T

intronic

De novo

-

Trost2022 G

MAN2A1

mAGRE5095

chr5:
109153008-109153008

C

T

exonic

Maternal

stopgain

NM_002372

c.C1978T

p.R660X

49.0

-

Cirnigliaro2023 G

MAN2A1

AU4145301

chr5:
109045243-109045243

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAN2A1

1-0928-003

chr5:
109167630-109167633

CAAA

C

intronic

De novo

-

Trost2022 G

MAN2A1

3-0647-000

chr5:
109131948-109131948

A

G

intronic

De novo

-

Trost2022 G

MAN2A1

6300

chr5:
109153182-109153182

A

C

intronic

De novo

-

3.0E-4

Trost2022 G

MAN2A1

1-1058-003

chr5:
109112487-109112487

A

G

intronic

De novo

-

Trost2022 G

MAN2A1

2-1370-003

chr5:
109079016-109079016

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MAN2A1

1-1011-003

chr5:
109131130-109131130

G

A

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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