Variant Results

or

Results for "GALNT14"

Variant Events: 42

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

GALNT14

MSSNG00383-003

chr2:
31142371-31142371

C

T

intronic

De novo

-

Trost2022 G

GALNT14

AU075207

chr2:
31245646-31245646

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

SJD_8.3

chr2:
31149396-31149396

G

A

intronic

De novo

-

Trost2022 G

GALNT14

2-0310-004

chr2:
31235289-31235289

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

2-1359-005

chr2:
31145246-31145246

G

C

intronic

De novo

-

Trost2022 G

GALNT14

111316

chr2:
31178597-31178597

G

A

exonic

nonsynonymous SNV

NM_024572
NM_001253826
NM_001253827

c.C541T
c.C556T
c.C481T

p.R181W
p.R186W
p.R161W

28.5

8.258E-6

Woodbury-Smith2022 E

GALNT14

1-0486-003

chr2:
31293459-31293459

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

1-0671-003

chr2:
31266541-31266541

C

T

intronic

De novo

-

Trost2022 G

GALNT14

MSSNG00339-003

chr2:
31243365-31243365

C

T

intronic

De novo

-

Trost2022 G

GALNT14

1-0054-003

chr2:
31207929-31207929

T

TGAGCTCCTAGG

intronic

De novo

-

Yuen2017 G

GALNT14

REACH000510

chr2:
31292340-31292340

T

C

intronic

De novo

-

Trost2022 G

GALNT14

7-0381-003

chr2:
31276982-31276982

C

T

intronic

De novo

-

Trost2022 G

GALNT14

MSSNG00354-004

chr2:
31174534-31174534

G

T

intronic

De novo

-

Trost2022 G

GALNT14

1-0043-004

chr2:
31282739-31282739

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

MSSNG00001-004

chr2:
31149743-31149743

G

A

intronic

De novo

-

Trost2022 G

GALNT14

AU3506303

chr2:
31287917-31287917

G

T

intronic

De novo

-

Yuen2017 G

GALNT14

4-0062-003

chr2:
31230751-31230752

TT

GA

intronic

De novo

-

Trost2022 G

GALNT14

MT_78.3

chr2:
31199477-31199487

GCGTGTGTGTA

G

intronic

De novo

-

Trost2022 G

GALNT14

1-0214-003

chr2:
31201750-31201750

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

AU2718301

chr2:
31361612-31361612

C

G

upstream

De novo

-

Trost2022 G

GALNT14

2-1242-003

chr2:
31249795-31249795

G

A

intronic

De novo

-

Yuen2017 G

GALNT14

5-0011-003

chr2:
31327761-31327761

C

G

intronic

De novo

-

Trost2022 G

GALNT14

SJD_58.4

chr2:
31313099-31313099

C

T

intronic

De novo

-

Trost2022 G

GALNT14

1-0841-003

chr2:
31300586-31300586

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

AU066818

chr2:
31146380-31146380

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

MSSNG00420-003

chr2:
31357771-31357771

C

G

intronic

De novo

-

Trost2022 G

GALNT14

2-1659-003

chr2:
31340152-31340152

C

A

intronic

De novo

-

Trost2022 G

GALNT14

1-0206-005

chr2:
31244925-31244925

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

1-0755-003

chr2:
31385776-31385776

T

G

intergenic

De novo

-

Yuen2017 G

GALNT14

2-0013-003

chr2:
31207929-31207929

T

TGAGCTCCTAGG

intronic

De novo

-

Yuen2017 G

GALNT14

SP0020404

chr2:
31147092-31147092

G

A

exonic

De novo

stopgain

NM_024572
NM_001253826
NM_001253827

c.C1273T
c.C1288T
c.C1213T

p.R425X
p.R430X
p.R405X

38.0

2.471E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

GALNT14

iHART1855

chr2:
31165103-31165104

CA

C

exonic

Paternal

stopgain

NM_024572
NM_001253826
NM_001253827

c.894delT
c.909delT
c.834delT

p.Y298X
p.Y303X
p.Y278X

-

6.59E-5

Ruzzo2019 G

GALNT14

mAGRE1855

chr2:
31165103-31165104

CA

C

exonic

Paternal

stopgain

NM_024572
NM_001253826
NM_001253827

c.894delT
c.909delT
c.834delT

p.Y298X
p.Y303X
p.Y278X

-

6.59E-5

Cirnigliaro2023 G

GALNT14

1-0627-006

chr2:
31251981-31251981

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

AU3912303

chr2:
31205766-31205766

C

T

intronic

De novo

-

Yuen2017 G

GALNT14

1-0627-006

chr2:
31251971-31251971

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

AU2123301

chr2:
31306151-31306151

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

1-0372-003

chr2:
31168706-31168706

C

T

exonic

De novo

nonsynonymous SNV

NM_024572
NM_001253826
NM_001253827

c.G685A
c.G700A
c.G625A

p.D229N
p.D234N
p.D209N

33.0

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

GALNT14

2-0057-003

chr2:
31180871-31180871

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GALNT14

1-0454-003

chr2:
31391081-31391081

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GALNT14

10C109030

chr2:
31168706-31168706

C

T

exonic

De novo

nonsynonymous SNV

NM_024572
NM_001253826
NM_001253827

c.G685A
c.G700A
c.G625A

p.D229N
p.D234N
p.D209N

33.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GALNT14

AU4093302

chr2:
31368148-31368148

C

T

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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