Variant Results

or

Results for "GALNT18"

Variant Events: 36

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

GALNT18

AU3727302

chr11:
11224112-11224112

C

T

intergenic

De novo

-

Yuen2017 G

GALNT18

2-1444-003

chr11:
10932634-10932634

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GALNT18

13874.p1

chr11:
11062178-11062178

G

A

intergenic

De novo

-

Turner2016 G

GALNT18

14482.p1

chr11:
11291408-11291408

A

C

intergenic

De novo

-

Turner2016 G

GALNT18

1-0067-005

chr11:
11315475-11315489

AATTTCCATGCACAC

A

intronic

De novo

-

Yuen2017 G

GALNT18

1-0465-003

chr11:
11668053-11668053

A

T

intergenic

De novo

-

Yuen2017 G

GALNT18

5-0025-004

chr11:
11477608-11477608

A

G

intronic

De novo

-

Yuen2017 G

GALNT18

2-1398-003

chr11:
11572621-11572621

C

G

intronic

De novo

-

Yuen2017 G

GALNT18

AU3175302

chr11:
11135608-11135608

G

T

intergenic

De novo

-

Yuen2017 G

GALNT18

2-1336-003

chr11:
11510778-11510778

G

A

intronic

De novo

-

Yuen2017 G

GALNT18

AU3888302

chr11:
11088350-11088350

G

A

intergenic

De novo

-

Yuen2017 G

GALNT18

1-0200-004

chr11:
11262797-11262797

C

A

intergenic

De novo

-

Yuen2017 G

GALNT18

AU3052302

chr11:
11518981-11518981

G

A

intronic

De novo

-

Yuen2017 G

GALNT18

AU073006

chr11:
11006138-11006138

C

A

intergenic

De novo

-

Yuen2017 G

GALNT18

74-0355

chr11:
11509604-11509604

T

C

intronic

De novo

-

Michaelson2012 G

GALNT18

1-0138-003

chr11:
10975863-10975876

CAGAATTTATGGAG

C

intergenic

De novo

-

Yuen2017 G

GALNT18

2-0319-003

chr11:
11510115-11510115

C

A

intronic

De novo

-

Yuen2017 G

GALNT18

2-0295-003

chr11:
11107603-11107603

G

A

intergenic

De novo

-

Yuen2017 G

GALNT18

215-13003-43

chr11:
11292818-11292818

C

T

exonic

Unknown

nonsynonymous SNV

NM_198516

c.G1697A

p.R566H

17.42

8.248E-6

Stessman2017 T

GALNT18

1-0338-005

chr11:
11557405-11557405

A

ACAGT

intronic

De novo

-

Yuen2017 G

GALNT18

2-0208-003

chr11:
11280438-11280438

G

A

intergenic

De novo

-

Yuen2017 G

GALNT18

1-0201-004

chr11:
11271367-11271374

CGCCAAAG

C

intergenic

De novo

-

Yuen2017 G

GALNT18

13548.p1

Complex Event; expand row to view variants

De novo

nonframeshift substitution, frameshift deletion

NM_198516
NM_198516
NM_198516
NM_198516

c.1566_1573del
c.1563delC
c.1562delC
c.1563_1573AC

p.T522fs
p.P521fs
p.P521fs
N/A

-

Dong2014 E
Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

GALNT18

1-0067-004

chr11:
11315475-11315489

AATTTCCATGCACAC

A

intronic

De novo

-

Yuen2017 G

GALNT18

1-0465-003a

chr11:
11668053-11668053

A

T

intergenic

De novo

-

Yuen2017 G

GALNT18

AU3076302

chr11:
11492391-11492391

T

C

intronic

De novo

-

Yuen2017 G

GALNT18

1-0196-005

chr11:
11055276-11055276

T

A

intergenic

De novo

-

Yuen2017 G

GALNT18

1-0627-007

chr11:
11503903-11503903

T

G

intronic

De novo

-

Yuen2017 G

GALNT18

AU069603

chr11:
11162445-11162452

GAACAACA

GAACA

intergenic

De novo

-

Yuen2017 G

GALNT18

2-1142-003

chr11:
11017468-11017468

A

G

intergenic

De novo

-

Yuen2017 G

GALNT18

2-1428-003

chr11:
11093865-11093865

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GALNT18

AU051A

chr11:
11394085-11394085

C

T

exonic

De novo

nonsynonymous SNV

NM_198516

c.G1069A

p.E357K

26.1

1.651E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

GALNT18

1-0338-003

chr11:
11557405-11557405

A

ACAGT

intronic

De novo

-

Yuen2017 G

GALNT18

1-0201-005

chr11:
11271367-11271374

CGCCAAAG

C

intergenic

De novo

-

Yuen2017 G

GALNT18

1-0404-003

chr11:
10976236-10976236

C

T

intergenic

De novo

-

Yuen2017 G

GALNT18

2-1502-003

chr11:
11342036-11342036

A

G

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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