Variant Results

or

or

Results for "MAN1B1"

Variant Events: 14

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

MAN1B1

2-1378-003

chr9:
139996789-139996789

G

A

intronic

De novo

-

-

Trost2022 G

MAN1B1

1-0835-003

chr9:
139996193-139996208

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intronic

De novo

-

-

Yuen2017 G

MAN1B1

MSSNG00030-003

chr9:
139996828-139996828

C

T

intronic

De novo

-

-

Trost2022 G

MAN1B1

1-0402-003

chr9:
139983050-139983050

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAN1B1

SP0025011

chr9:
139990875-139990875

G

A

intronic

De novo

-

Fu2022 E

MAN1B1

SP0107580

chr9:
139994369-139994369

C

T

intronic

De novo

-

Fu2022 E

MAN1B1

SP0230812

chr9:
140002996-140002996

G

T

exonic

De novo

nonsynonymous SNV

NM_016219

c.G2053T

p.V685L

21.0

-

Trost2022 G

MAN1B1

2-1514-003

chr9:
140003042-140003042

A

G

exonic

De novo

stoploss

NM_016219

c.A2099G

p.X700W

14.97

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MAN1B1

iHART3272

chr9:
139992377-139992379

CAG

C

exonic

Paternal

frameshift deletion

NM_016219

c.719_720del

p.Q240fs

-

-

Ruzzo2019 G

MAN1B1

SP0171629

chr9:
140003064-140003064

G

A

UTR3

De novo

8.473

-

Trost2022 G

MAN1B1

AU4056301

chr9:
139992377-139992379

CAG

C

exonic

Paternal

frameshift deletion

NM_016219

c.719_720del

p.Q240fs

-

-

Cirnigliaro2023 G

MAN1B1

mAGRE5741

chr9:
139992278-139992278

A

G

splicing

Paternal

splicing

13.23

-

Cirnigliaro2023 G

MAN1B1

mAGRE5740

chr9:
139992278-139992278

A

G

splicing

Paternal

splicing

13.23

-

Cirnigliaro2023 G

MAN1B1

Al-Mubarak2017:ASD-16

chr9:
140002840-140002840

G

T

exonic

Unknown

nonsynonymous SNV

NM_016219

c.G1897T

p.V633F

19.96

Al-Mubarak2017 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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