Variant Results

or

Results for "SLC35F4"

Variant Events: 40

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

SLC35F4

1-0756-005

chr14:
58340300-58340300

C

T

intergenic

De novo

-

Yuen2017 G

SLC35F4

MSSNG00012-003

chr14:
58085501-58085501

T

C

intronic

De novo

-

Trost2022 G

SLC35F4

7-0104-003

chr14:
58436313-58436313

G

A

intergenic

De novo

-

Yuen2017 G

SLC35F4

iHART3103

chr14:
58038738-58038738

C

A

splicing

Maternal

splicing

25.3

-

Ruzzo2019 G

SLC35F4

2-0270-003

chr14:
58140200-58140205

AAGGTG

C

intronic

De novo

-

Trost2022 G

SLC35F4

1-1134-004

chr14:
58038488-58038488

A

G

intronic

De novo

-

Trost2022 G

SLC35F4

3-0832-000

chr14:
58051994-58051994

G

A

intronic

De novo

-

Trost2022 G

SLC35F4

2-1186-003

chr14:
58168221-58168221

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SLC35F4

iHART3107

chr14:
58038738-58038738

C

A

splicing

Maternal

splicing

25.3

-

Ruzzo2019 G

SLC35F4

1-0508-003

chr14:
58327228-58327228

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

7-0103-003

chr14:
58354523-58354523

C

T

intergenic

De novo

-

Yuen2017 G

SLC35F4

P6Q4Z_01

chr14:
58298503-58298503

C

T

intronic

De novo

-

Trost2022 G

SLC35F4

mAGRE3103

chr14:
58038738-58038738

C

A

splicing

Maternal

splicing

25.3

-

Cirnigliaro2023 G

SLC35F4

3-0602-000

chr14:
58285403-58285403

G

A

intronic

De novo

-

Trost2022 G

SLC35F4

2-1502-003

chr14:
58176346-58176346

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

2-1481-003

chr14:
58291065-58291065

C

T

intronic

De novo

-

Trost2022 G

SLC35F4

7-0392-004

chr14:
58266431-58266431

C

A

intronic

De novo

-

Trost2022 G

SLC35F4

3-0221-000

chr14:
58270084-58270084

C

CTT

intronic

De novo

-

Trost2022 G

SLC35F4

2-0270-004

chr14:
58140200-58140205

AAGGTG

C

intronic

De novo

-

Trost2022 G

SLC35F4

1-0834-003

chr14:
58196120-58196120

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

MSSNG00001-004

chr14:
58207496-58207496

C

T

intronic

De novo

-

Trost2022 G

SLC35F4

2-1725-003

chr14:
58029701-58029701

G

A

downstream

De novo

-

Yuen2017 G

SLC35F4

1-0203-004

chr14:
58243037-58243037

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

mAGRE3107

chr14:
58038738-58038738

C

A

splicing

Maternal

splicing

25.3

-

Cirnigliaro2023 G

SLC35F4

1-0447-003

chr14:
58244492-58244511

CATAATAATAATAATAATAA

CATAATAATAATAATAA

intronic

De novo

-

Yuen2017 G

SLC35F4

AU003403

chr14:
58390070-58390070

C

T

intergenic

De novo

-

Yuen2017 G

SLC35F4

1-0214-003

chr14:
58234278-58234278

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

2-1335-004

chr14:
58298590-58298590

T

G

intronic

De novo

-

Yuen2017 G

SLC35F4

1-0354-006

chr14:
58404622-58404622

T

C

intergenic

De novo

-

Yuen2017 G

SLC35F4

1-0403-003

chr14:
58338654-58338654

G

A

intergenic

De novo

-

Yuen2017 G

SLC35F4

1-0403-003

chr14:
58145501-58145501

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

AU3371303

chr14:
58095961-58095961

G

C

intronic

De novo

-

Yuen2017 G

SLC35F4

1-0591-003

chr14:
58175370-58175370

G

A

intronic

De novo

-

Yuen2017 G

SLC35F4

2-1702-004

chr14:
58041614-58041617

GTTC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

AU4269301

chr14:
58359416-58359416

G

A

intergenic

De novo

-

Yuen2017 G

SLC35F4

1-0336-004

chr14:
58192395-58192395

A

AACAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC35F4

1-0138-004

chr14:
58354026-58354026

G

A

intergenic

De novo

-

Yuen2017 G

SLC35F4

SP0005356

chr14:
58047903-58047903

A

G

intronic

De novo

-

Fu2022 E

SLC35F4

SP0145834

chr14:
58033238-58033238

T

C

exonic

De novo

nonsynonymous SNV

NM_001206920
NM_001306087

c.A1168G
c.A1171G

p.I390V
p.I391V

17.37

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SLC35F4

1-0381-003

chr14:
58372404-58372404

A

C

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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