Variant Results

or

Results for "GALNTL6"

Variant Events: 69

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

GALNTL6

1-0252-003

chr4:
174035594-174035594

T

TAAAGAAA

intergenic

De novo

-

Yuen2017 G

GALNTL6

1-0597-003

chr4:
174022963-174022963

G

A

intergenic

De novo

-

Yuen2017 G

GALNTL6

2-0264-004

chr4:
173945501-173945501

A

C

intronic

De novo

-

Yuen2017 G

GALNTL6

AU076509

chr4:
173759928-173759928

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0022-003

chr4:
174062435-174062435

G

C

intergenic

De novo

-

Yuen2017 G

GALNTL6

AU056803

chr4:
173845869-173845869

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3839302

chr4:
173872128-173872128

C

A

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0756-004

chr4:
173058336-173058336

A

G

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0116-005

chr4:
173485591-173485591

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

AU018010

chr4:
173372982-173372982

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

AU018010

chr4:
173381876-173381876

T

A

intronic

De novo

-

Yuen2017 G

GALNTL6

2-1429-004

chr4:
172843479-172843479

C

CGT

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3875301

chr4:
173087444-173087444

A

G

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0003-004

chr4:
173539751-173539753

TAA

T

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0003-004

chr4:
173408402-173408402

C

CCTTCT

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0198-005

chr4:
172808056-172808056

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

AU009903

chr4:
173480372-173480372

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0309-004

chr4:
174000003-174000003

G

A

intergenic

De novo

-

Yuen2017 G

GALNTL6

2-1358-003

chr4:
173028226-173028226

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

2-1358-003

chr4:
173028146-173028146

T

G

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0345-004

chr4:
173939225-173939239

AAGACAGAGAGATGG

A

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0193-003

chr4:
173670697-173670697

C

G

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0638-003

chr4:
172916474-172916484

TTCCATCCATC

TTCCATC

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0497-003

chr4:
173468948-173468948

A

G

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0206-005

chr4:
173398558-173398558

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

SP0045624

chr4:
173730770-173730770

C

CTGATTGCAAACTA

intronic

De novo

-

Fu2022 E

GALNTL6

1-0125-003

chr4:
173184572-173184572

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0595-005

chr4:
173983114-173983114

G

A

intergenic

De novo

-

Yuen2017 G

GALNTL6

1-0460-003

chr4:
173469490-173469490

C

G

intronic

De novo

-

Yuen2017 G

GALNTL6

SP0027493

chr4:
173873330-173873330

A

G

exonic

De novo

nonsynonymous SNV

NM_001034845

c.A1292G

p.K431R

15.07

4.122E-5

Fu2022 E

GALNTL6

AU4122301

chr4:
173043253-173043253

C

A

intronic

De novo

-

Yuen2017 G

GALNTL6

SP0037159

chr4:
173930333-173930333

G

A

exonic

De novo

nonsynonymous SNV

NM_001034845

c.G1376A

p.R459Q

5.978

1.648E-5

Fu2022 E

GALNTL6

AU3727303

chr4:
172950124-172950127

GAAA

GAA

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3727303

chr4:
173745396-173745396

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

5-0110-003

chr4:
173348807-173348807

C

G

intronic

De novo

-

Yuen2017 G

GALNTL6

2-0198-004

chr4:
172808056-172808056

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

iHART3023

chr4:
173804010-173804011

TC

T

exonic

Paternal

frameshift deletion

NM_001034845

c.994delC

p.P332fs

-

8.25E-6

Ruzzo2019 G

GALNTL6

1-0820-003

chr4:
173200990-173200990

A

T

intronic

De novo

-

Yuen2017 G

GALNTL6

12641.p1

chr4:
173873251-173873251

C

G

exonic

De novo

nonsynonymous SNV

NM_001034845

c.C1213G

p.P405A

25.1

4.969E-5

Ji2016 E
Krumm2015 E

GALNTL6

1-0547-003

chr4:
174016204-174016204

A

G

intergenic

De novo

-

Yuen2017 G

GALNTL6

2-0270-003

chr4:
173975591-173975591

T

C

intergenic

De novo

-

Yuen2017 G

GALNTL6

3-0080-000

chr4:
173129264-173129264

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GALNTL6

AU4260303

chr4:
173286426-173286426

C

G

intronic

De novo

-

Yuen2017 G

GALNTL6

A9

chr4:
173825623-173825623

G

C

intronic

De novo

-

Wu2018 G

GALNTL6

1-0994-003

chr4:
173255242-173255242

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0935-003

chr4:
173754231-173754231

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0197-004

chr4:
172964985-172964985

G

C

intronic

De novo

-

Yuen2017 G

GALNTL6

SJD_50

chr4:
173150811-173150811

T

G

exonic

Maternal

nonsynonymous SNV

NM_001034845

c.T143G

p.F48C

17.32

-

Toma2013 E

GALNTL6

1-0206-004

chr4:
173398558-173398558

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

AU048206

chr4:
173329859-173329859

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

12628.p1

chr4:
173380115-173380115

A

G

intronic

De novo

-

Werling2018 G

GALNTL6

1-0715-003

chr4:
173681868-173681868

T

G

intronic

De novo

-

Yuen2017 G

GALNTL6

2-1592-003

chr4:
173859175-173859175

A

G

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3846302

chr4:
173888034-173888034

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0604-003

chr4:
172856815-172856815

T

A

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3703302

chr4:
173829756-173829756

C

T

intronic

De novo

-

Yuen2017 G

GALNTL6

AU038203

chr4:
173015462-173015462

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

2-1730-003

chr4:
173482171-173482171

A

G

intronic

De novo

-

Yuen2017 G

GALNTL6

13393.p1

chr4:
172785185-172785185

T

C

intronic

De novo

-

Turner2016 G

GALNTL6

2-1116-003

chr4:
173209096-173209096

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GALNTL6

5-0087-003

chr4:
173733047-173733052

ATTTTT

ATTTTTT

intronic

De novo

-

Yuen2017 G

GALNTL6

AU063005

chr4:
173845969-173845969

C

A

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0651-003

chr4:
172800656-172800656

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

AU3398301

chr4:
173489766-173489766

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

AU047904

chr4:
173916044-173916044

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

2-1355-004

chr4:
173916549-173916549

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

AU058104

chr4:
172774306-172774306

G

A

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0161-003

chr4:
173037903-173037903

T

C

intronic

De novo

-

Yuen2017 G

GALNTL6

1-0835-003

chr4:
173847688-173847688

C

T

intronic

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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