Variant Results

or

or

Results for "MGAT5B"

Variant Events: 23

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

MGAT5B

14048.p1

chr17:
74944056-74944056

C

T

exonic

De novo

nonsynonymous SNV

NM_198955
NM_001199172
NM_144677

c.C2095T
c.C2068T
c.C2062T

p.R699W
p.R690W
p.R688W

21.4

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

MGAT5B

1-0467-003

chr17:
74949073-74949073

T

C

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

1-0265-003

chr17:
74873884-74873884

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MGAT5B

2-0098-003

chr17:
74877811-74877811

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MGAT5B

H3E8D_01

chr17:
74921106-74921106

G

A

exonic

De novo

nonsynonymous SNV

NM_198955
NM_001199172
NM_144677

c.G1117A
c.G1084A
c.G1084A

p.D373N
p.D362N
p.D362N

36.0

Trost2022 G
Zhou2022 GE

MGAT5B

AU3811305

chr17:
75041515-75041515

A

G

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

1-0568-003

chr17:
74924239-74924239

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MGAT5B

AU3398301

chr17:
74916101-74916101

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MGAT5B

SSC10289

chr17:
74944056-74944056

C

T

exonic

De novo

nonsynonymous SNV

NM_198955
NM_001199172
NM_144677

c.C2095T
c.C2068T
c.C2062T

p.R699W
p.R690W
p.R688W

21.4

Fu2022 E
Lim2017 E
Trost2022 G

MGAT5B

2-1729-003

chr17:
74944009-74944009

G

A

exonic

De novo

nonsynonymous SNV

NM_198955
NM_001199172
NM_144677

c.G2048A
c.G2021A
c.G2015A

p.R683Q
p.R674Q
p.R672Q

4.45

Trost2022 G
Yuen2017 G
Zhou2022 GE

MGAT5B

1-0265-004

chr17:
74873884-74873884

A

G

intronic

De novo

-

-

Yuen2017 G

MGAT5B

2-0142-004

chr17:
74887251-74887251

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MGAT5B

AU2156303

chr17:
74979969-74979969

G

C

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

2-1146-003

chr17:
75036723-75036723

G

A

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

2-1174-006

chr17:
74949045-74949045

T

C

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

SP0140803

chr17:
74928901-74928902

AC

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MGAT5B

5-0071-003

chr17:
74949045-74949045

T

C

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

2-0135-004

chr17:
74949049-74949049

A

G

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

SP0120692

chr17:
74928803-74928803

C

T

exonic

De novo

synonymous SNV

NM_198955
NM_001199172
NM_144677

c.C1401T
c.C1368T
c.C1368T

p.G467G
p.G456G
p.G456G

-

-

Trost2022 G

MGAT5B

SJD_14.3

chr17:
74932398-74932398

G

A

intronic

De novo

-

-

Trost2022 G

MGAT5B

1-0344-003

chr17:
74949083-74949083

A

G

intergenic

De novo

-

-

Yuen2017 G

MGAT5B

SP0147038

chr17:
74921243-74921243

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MGAT5B

4-0003-003

chr17:
74911258-74911258

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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