Variant Results

or

Results for "STK31"

Variant Events: 34

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

STK31

2-0102-003

chr7:
23892225-23892225

T

A

intergenic

De novo

-

Yuen2017 G

STK31

AU2100302

chr7:
23763850-23763850

T

C

intronic

De novo

-

Yuen2017 G

STK31

1-0218-004

chr7:
23804725-23804725

A

AG

intronic

De novo

-

Yuen2017 G

STK31

1-0175-003

chr7:
23831057-23831061

CAAAG

C

intronic

De novo

-

Yuen2017 G

STK31

1-0144-005

chr7:
23833234-23833234

A

G

intronic

De novo

-

Yuen2017 G

STK31

1-0563-003

chr7:
24224401-24224401

C

T

intergenic

De novo

-

Yuen2017 G

STK31

AU3124302

chr7:
23774814-23774814

C

T

intronic

De novo

-

Yuen2017 G

STK31

1-0274-003

chr7:
23903866-23903866

C

T

intergenic

De novo

-

Yuen2017 G

STK31

SSC07699

chr7:
23776560-23776560

A

G

exonic

De novo

nonsynonymous SNV

NM_001260504
NM_001260505
NM_031414
NM_032944

c.A811G
c.A880G
c.A880G
c.A811G

p.N271D
p.N294D
p.N294D
p.N271D

23.2

-

Lim2017 E

STK31

2-0307-004

chr7:
24237629-24237629

G

A

intergenic

De novo

-

Yuen2017 G

STK31

AU079605

chr7:
24106778-24106778

A

T

intergenic

De novo

-

Yuen2017 G

STK31

13520.p1

chr7:
23776560-23776560

A

G

exonic

De novo

nonsynonymous SNV

NM_001260504
NM_001260505
NM_031414
NM_032944

c.A811G
c.A880G
c.A880G
c.A811G

p.N271D
p.N294D
p.N294D
p.N271D

23.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

STK31

2-0109-003

chr7:
24011074-24011074

C

T

intergenic

De novo

-

Yuen2017 G

STK31

2-1427-003

chr7:
24052692-24052692

A

T

intergenic

De novo

-

Yuen2017 G

STK31

13023.p1

chr7:
23947218-23947218

T

C

intergenic

De novo

-

Turner2016 G

STK31

12175.p1

chr7:
24147692-24147692

G

A

intergenic

De novo

-

Turner2016 G

STK31

7-0023-003

chr7:
24064814-24064814

A

G

intergenic

De novo

-

Yuen2017 G

STK31

AU069603

chr7:
23781984-23781984

C

A

intronic

De novo

-

Yuen2017 G

STK31

2-1357-004

chr7:
24207403-24207403

T

TAC

intergenic

De novo

-

Yuen2017 G

STK31

3-0307-000

chr7:
23919568-23919568

C

A

intergenic

De novo

-

Yuen2017 G

STK31

AU072504

chr7:
24098768-24098768

A

G

intergenic

De novo

-

Yuen2017 G

STK31

1-0274-004

chr7:
23903866-23903866

C

T

intergenic

De novo

-

Yuen2017 G

STK31

7-0067-003

chr7:
24130994-24130994

T

C

intergenic

De novo

-

Yuen2017 G

STK31

1-0175-004

chr7:
23831057-23831061

CAAAG

C

intronic

De novo

-

Yuen2017 G

STK31

1-0972-003

chr7:
24032050-24032050

C

T

intergenic

De novo

-

Yuen2017 G

STK31

ASC_142560

chr7:
23768757-23768757

A

G

exonic

De novo

synonymous SNV

NM_001260504
NM_001260505
NM_031414
NM_032944

c.A303G
c.A372G
c.A372G
c.A303G

p.R101R
p.R124R
p.R124R
p.R101R

-

Satterstrom2020 E

STK31

AU011604

chr7:
24120025-24120025

C

T

intergenic

De novo

-

Yuen2017 G

STK31

AU063004

chr7:
24213856-24213856

G

A

intergenic

De novo

-

Yuen2017 G

STK31

AU4235301

chr7:
24107794-24107794

T

G

intergenic

De novo

-

Yuen2017 G

STK31

2-1391-003

chr7:
24069227-24069227

T

G

intergenic

De novo

-

Yuen2017 G

STK31

AU070007

chr7:
24029793-24029793

A

G

intergenic

De novo

-

Yuen2017 G

STK31

A19

chr7:
24221711-24221711

T

C

intergenic

De novo

-

Wu2018 G

STK31

AU012804

chr7:
23977944-23977944

A

G

intergenic

De novo

-

Yuen2017 G

STK31

2-1466-003

chr7:
23900603-23900603

A

G

intergenic

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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