Variant Results

or

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Results for "GALNTL5"

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

GALNTL5

13556.p1

chr7:
151684364-151684364

C

T

exonic

De novo

nonsynonymous SNV

NM_145292

c.C656T

p.S219L

17.61

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

GALNTL5

mAGRE1485

chr7:
151699798-151699798

G

C

splicing

Paternal

splicing

21.4

Cirnigliaro2023 G

GALNTL5

2-0214-004

chr7:
151625493-151625493

T

C

intergenic

De novo

-

-

Yuen2017 G

GALNTL5

mAGRE4393

chr7:
151664579-151664579

G

C

splicing

Paternal

splicing

10.19

Cirnigliaro2023 G

GALNTL5

AU3900302

chr7:
151664579-151664579

G

C

splicing

Paternal

splicing

10.19

Cirnigliaro2023 G

GALNTL5

mAGRE5533

chr7:
151664291-151664291

A

G

splicing

Maternal

splicing

-

Cirnigliaro2023 G

GALNTL5

iHART1485

chr7:
151699798-151699798

G

C

splicing

Paternal

splicing

21.4

Ruzzo2019 G

GALNTL5

2-0006-004

chr7:
151671374-151671374

T

TACCCA

intronic

De novo

-

-

Yuen2017 G

GALNTL5

iHART3216

chr7:
151664579-151664579

G

C

splicing

Paternal

splicing

10.19

Ruzzo2019 G

GALNTL5

AU3397302

chr7:
151707072-151707072

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GALNTL5

7-0327-003

chr7:
151675673-151675673

G

A

intronic

De novo

-

-

Trost2022 G

GALNTL5

SSC08089

chr7:
151684364-151684364

C

T

exonic

De novo

nonsynonymous SNV

NM_145292

c.C656T

p.S219L

17.61

-

Fu2022 E
Lim2017 E
Trost2022 G

GALNTL5

3-0161-000

chr7:
151703630-151703630

A

G

intronic

De novo

-

-

Trost2022 G

GALNTL5

SP0064219

chr7:
151704946-151704946

C

T

exonic

De novo

nonsynonymous SNV

NM_145292

c.C943T

p.R315C

13.81

Fu2022 E
Trost2022 G
Zhou2022 GE

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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