Variant Results

or

Results for "SLC28A3"

Variant Events: 31

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

SLC28A3

1-0531-003

chr9:
87120629-87120629

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC28A3

1-0571-003

chr9:
87103681-87103681

G

T

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-1646-003

chr9:
87074111-87074116

TGAGAG

TGAG

intergenic

De novo

-

Yuen2017 G

SLC28A3

13946.p1

chr9:
87117778-87117778

G

T

intergenic

De novo

-

Turner2016 G

SLC28A3

13946.p1

chr9:
87117792-87117792

G

T

intergenic

De novo

-

Turner2016 G

SLC28A3

AU2100302

chr9:
87200069-87200069

T

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-0197-004

chr9:
87064289-87064289

C

CCCTCTGTCCTTTTCTCTTGCTGAGGCT

intergenic

De novo

-

Yuen2017 G

SLC28A3

1-0777-003

chr9:
87015546-87015546

G

T

intergenic

De novo

-

Yuen2017 G

SLC28A3

1-0004-003

chr9:
87181381-87181381

T

TA

intergenic

De novo

-

Yuen2017 G

SLC28A3

1-0469-005

chr9:
87047543-87047543

T

C

intergenic

De novo

-

Yuen2017 G

SLC28A3

SP0111710

chr9:
86894130-86894132

TGA

T

intronic

De novo

-

Fu2022 E

SLC28A3

AU4306302

chr9:
87039671-87039671

A

C

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-0081-003

chr9:
86911519-86911519

G

A

intronic

De novo

-

Yuen2017 G

SLC28A3

5-0110-003

chr9:
86971801-86971801

T

A

intronic

De novo

-

Yuen2017 G

SLC28A3

AU079104

chr9:
87052992-87052992

G

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-1510-003

chr9:
87163296-87163311

CCTCTCTCTCTCTCTC

CCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

SLC28A3

1-0269-005

chr9:
87244760-87244760

A

G

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-0081-003

chr9:
87099603-87099603

A

G

intergenic

De novo

-

Yuen2017 G

SLC28A3

3-0482-000

chr9:
87049434-87049434

G

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

11239.p1

chr9:
86914658-86914658

G

C

intronic

De novo, Mosaic

-

Dou2017 E
Krumm2015 E

SLC28A3

A27

chr9:
87261820-87261820

C

T

intergenic

De novo

-

Wu2018 G

SLC28A3

2-0286-003

chr9:
87251741-87251741

C

CTTTCTCTCTTTCTT

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-1143-003

chr9:
87207249-87207249

G

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

AU3763305

chr9:
87046476-87046476

C

T

intergenic

De novo

-

Yuen2017 G

SLC28A3

iHART1848

chr9:
86920177-86920177

A

C

exonic

Paternal

stopgain

NM_001199633
NM_022127

c.T326G
c.T326G

p.L109X
p.L109X

21.7

8.25E-6

Ruzzo2019 G

SLC28A3

2-1644-003

chr9:
86916527-86916531

TTGTG

T

intronic

De novo

-

Yuen2017 G

SLC28A3

1-0272-004

chr9:
87279874-87279874

T

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-0132-004

chr9:
87208817-87208817

A

T

intergenic

De novo

-

Yuen2017 G

SLC28A3

2-0208-004

chr9:
87177638-87177638

G

A

intergenic

De novo

-

Yuen2017 G

SLC28A3

SP0041645

chr9:
86903067-86903067

C

T

exonic

De novo

synonymous SNV

NM_001199633
NM_022127

c.G1176A
c.G1176A

p.A392A
p.A392A

-

0.0036

Feliciano2019 E

SLC28A3

AU4032307

chr9:
87233126-87233126

A

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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