Variant Results

or

Results for "ST18"

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

ST18

PN400194

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

1-0253-004

chr8:
53188830-53188830

G

A

intronic

De novo

-

Yuen2017 G

ST18

1-0323-003

chr8:
53294214-53294214

C

T

intronic

De novo

-

Yuen2017 G

ST18

AU3808305

chr8:
53211578-53211578

T

C

intronic

De novo

-

Yuen2017 G

ST18

5-0003-003

chr8:
53147641-53147641

C

A

intronic

De novo

-

Yuen2017 G

ST18

1-0683-003

chr8:
53188839-53188839

A

ACCACATGCACACACAC

intronic

De novo

-

Yuen2017 G

ST18

PN400480

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

AU3725302

chr8:
53275905-53275905

G

A

intronic

De novo

-

Yuen2017 G

ST18

2-0081-003

chr8:
53179679-53179679

C

T

intronic

De novo

-

Yuen2017 G

ST18

1-0052-003

chr8:
53061087-53061087

C

A

intronic

De novo

-

Yuen2017 G

ST18

AU045514

chr8:
53210541-53210541

T

C

intronic

De novo

-

Yuen2017 G

ST18

PN400396

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

2-1180-003

chr8:
53432556-53432556

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ST18

7-0247-003

chr8:
53192689-53192689

A

G

intronic

De novo

-

Yuen2017 G

ST18

PN400297

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

PN400209

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

AU036203

chr8:
53417337-53417337

T

C

intergenic

De novo

-

Yuen2017 G

ST18

2-1452-003

chr8:
53036442-53036442

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ST18

AU3905302

chr8:
53336063-53336070

ACCACAGC

AC

intergenic

De novo

-

Yuen2017 G

ST18

2-0223-003

chr8:
53188989-53188989

A

AC

intronic

De novo

-

Yuen2017 G

ST18

19275-30820

chr8:
53045827-53045829

CGT

C

exonic

frameshift deletion

NM_014682

c.2333_2334del

p.H778fs

-

Callaghan2019 G

ST18

PN400104

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

PN400257

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

1-0218-003

chr8:
53188981-53188981

C

CA

intronic

De novo

-

Yuen2017 G

ST18

PN400129

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

PN400285

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

1-0489-003

chr8:
53105045-53105045

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ST18

PN400195

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

2-0286-003

chr8:
53176844-53176844

T

C

intronic

De novo

-

Yuen2017 G

ST18

PN400205

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

2-1380-003

chr8:
53140293-53140293

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ST18

2-1302-003

chr8:
53205942-53205942

G

T

intronic

De novo

-

Yuen2017 G

ST18

871-19574

chr8:
53071669-53071669

G

C

exonic

Inherited

stopgain

NM_014682

c.C1595G

p.S532X

45.0

-

Callaghan2019 G

ST18

AU002405

chr8:
53364174-53364174

C

T

intergenic

De novo

-

Yuen2017 G

ST18

PN400301

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

PN400470

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

1-0414-005

chr8:
53188531-53188531

G

A

intronic

De novo

-

Yuen2017 G

ST18

PN400261

chr8:
53030923-53030923

G

T

exonic

Unknown

nonsynonymous SNV

NM_014682

c.C2834A

p.A945E

29.0

0.0036

Leblond2019 E

ST18

1-0045-004

chr8:
53071507-53071507

C

T

exonic

De novo

nonsynonymous SNV

NM_014682

c.G1757A

p.R586K

13.95

-

Yuen2017 G

ST18

2-1222-003

chr8:
53298998-53298998

A

G

intronic

De novo

-

Yuen2016 G
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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