Variant Results

or

Results for "STAB2"

Variant Events: 25

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

STAB2

AU3964302

chr12:
104162145-104162145

G

A

intergenic

De novo

-

Yuen2017 G

STAB2

10291

chr12:
104109603-104109603

G

A

exonic

De novo

synonymous SNV

NM_017564

c.G4548A

p.P1516P

-

1.648E-5

Fu2022 E
Satterstrom2020 E

STAB2

AU076508

chr12:
104107499-104107499

T

C

exonic

De novo

nonsynonymous SNV

NM_017564

c.T4490C

p.V1497A

4.884

-

Yuen2017 G

STAB2

AU3790301

chr12:
104039611-104039611

G

A

intronic

De novo

-

Yuen2017 G

STAB2

CC1041_203

chr12:
104125459-104125459

A

G

intronic

De novo

-

Fu2022 E

STAB2

iHART2855

chr12:
104134522-104134522

C

T

exonic

Paternal

stopgain

NM_017564

c.C5869T

p.R1957X

47.0

1.653E-5

Ruzzo2019 G

STAB2

iHART3127

chr12:
104042529-104042529

C

T

exonic

Maternal

stopgain

NM_017564

c.C1102T

p.R368X

40.0

4.944E-5

Ruzzo2019 G

STAB2

041-07-107684

chr12:
104122683-104122683

C

T

exonic

De novo

synonymous SNV

NM_017564

c.C4992T

p.V1664V

-

8.24E-6

Fu2022 E
Satterstrom2020 E

STAB2

Lim2017:10291

chr12:
104109603-104109603

G

A

exonic

De novo

synonymous SNV

NM_017564

c.G4548A

p.P1516P

-

1.648E-5

Lim2017 E

STAB2

1-0755-003

chr12:
104142942-104142942

G

A

intronic

De novo

-

9.136E-6

Yuen2017 G

STAB2

SP0073280

chr12:
104107528-104107528

G

A

exonic

De novo

nonsynonymous SNV

NM_017564

c.G4519A

p.D1507N

18.66

-

Fu2022 E

STAB2

SP0066581

chr12:
104144393-104144393

G

A

exonic

De novo

nonsynonymous SNV

NM_017564

c.G6475A

p.G2159R

23.0

7.416E-5

Fu2022 E

STAB2

1-0054-004

chr12:
104075695-104075695

C

G

intronic

De novo

-

Yuen2017 G

STAB2

1-0366-003

chr12:
104107450-104107450

G

A

exonic

De novo

nonsynonymous SNV

NM_017564

c.G4441A

p.G1481S

22.3

8.237E-6

Yuen2015 G

STAB2

AU039903

chr12:
104046355-104046355

A

G

exonic

Unknown

nonsynonymous SNV

NM_017564

c.A1279G

p.N427D

11.74

0.005

Chahrour2012 E

STAB2

SP0111241

chr12:
104144353-104144353

A

C

intronic

De novo

-

Fu2022 E

STAB2

SP0027502

chr12:
104077061-104077061

G

A

exonic

De novo

nonsynonymous SNV

NM_017564

c.G2884A

p.G962R

3.908

3.296E-5

Fu2022 E

STAB2

SP0010628

chr12:
103984796-103984796

T

A

exonic

De novo

nonsynonymous SNV

NM_017564

c.T203A

p.V68D

15.14

8.238E-6

Fu2022 E

STAB2

SP0025795

chr12:
104144514-104144514

G

A

intronic

De novo

-

9.328E-6

Fu2022 E

STAB2

SP0071856

chr12:
104034075-104034075

G

A

intronic

De novo

-

Fu2022 E

STAB2

Cukier2014:37994

chr12:
104138980-104138980

G

A

exonic

Unknown

nonsynonymous SNV

NM_017564

c.G6061A

p.D2021N

15.45

0.009

Cukier2014 E

STAB2

AU039903

chr12:
104147084-104147084

G

A

exonic

Unknown

nonsynonymous SNV

NM_017564

c.G6667A

p.E2223K

17.67

1.0E-4

Chahrour2012 E

STAB2

AU3713302

chr12:
104027809-104027809

T

C

intronic

De novo

-

Yuen2017 G

STAB2

1-0190-003

chr12:
104114198-104114198

C

G

intronic

De novo

-

Yuen2017 G

STAB2

2-1425-004

chr12:
103983021-103983021

C

T

intronic

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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