Variant Results

or

Results for "SPTBN2"

Variant Events: 30

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

SPTBN2

SP0194582

chr11:
66472516-66472516

G

A

exonic

De novo

nonsynonymous SNV

NM_006946

c.C2231T

p.A744V

13.7

-

Trost2022 G

SPTBN2

SP0224657

chr11:
66481593-66481593

G

T

exonic

De novo

nonsynonymous SNV

NM_006946

c.C625A

p.L209I

23.4

-

Trost2022 G

SPTBN2

MSSNG00421-007

chr11:
66469210-66469210

C

A

intronic

De novo

-

Trost2022 G

SPTBN2

MSSNG00421-007

chr11:
66469589-66469589

A

T

intronic

De novo

-

Trost2022 G

SPTBN2

SP0194582

chr11:
66466506-66466506

C

T

exonic

De novo

nonsynonymous SNV

NM_006946

c.G3824A

p.R1275Q

29.9

4.122E-5

Trost2022 G

SPTBN2

SP0200943

chr11:
66467984-66467984

C

T

intronic

De novo

-

Trost2022 G

SPTBN2

A1378B

chr11:
66457704-66457704

T

G

exonic

De novo

synonymous SNV

NM_006946

c.A5616C

p.G1872G

-

Fu2022 E

SPTBN2

14432.p1

chr11:
66463877-66463877

G

T

exonic

nonsynonymous SNV

NM_006946

c.C4149A

p.N1383K

16.57

-

Zhou2022 GE

SPTBN2

SP0119541

chr11:
66457625-66457625

G

A

exonic

nonsynonymous SNV

NM_006946

c.C5695T

p.R1899C

18.02

7.468E-5

Zhou2022 GE

SPTBN2

SP0131494

chr11:
66458924-66458924

G

A

exonic

De novo

nonsynonymous SNV

NM_006946

c.C5396T

p.A1799V

34.0

8.521E-6

Trost2022 G

SPTBN2

mAGRE5050

chr11:
66482785-66482786

CT

C

exonic

Maternal

frameshift deletion

NM_006946

c.390delA

p.K130fs

-

Cirnigliaro2023 G

SPTBN2

PN400515

chr11:
66457517-66457517

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_006946

c.C5803T

p.R1935C

19.86

2.476E-5

Leblond2019 E
Leblond2019 E

SPTBN2

Wang2023:65

chr11:
66472936-66472936

T

TA

exonic

De novo

frameshift insertion

NM_006946

c.1810dupT

p.Y604fs

-

Wang2023 E

SPTBN2

2-1235-003

chr11:
66482648-66482649

AG

GAA

intronic

De novo

-

Trost2022 G

SPTBN2

2-1638-003

chr11:
66489442-66489442

T

C

upstream

De novo

-

Trost2022 G

SPTBN2

2-0122-004

chr11:
66482648-66482649

AG

GAA

intronic

De novo

-

Trost2022 G

SPTBN2

PN400127

chr11:
66478111-66478111

C

T

exonic

Unknown

nonsynonymous SNV

NM_006946

c.G1015A

p.G339R

27.4

-

Leblond2019 E

SPTBN2

2-0210-004

chr11:
66482648-66482649

AG

GAA

intronic

De novo

-

Trost2022 G

SPTBN2

19283-30834

chr11:
66454910-66454910

T

C

exonic

nonsynonymous SNV

NM_006946

c.A6710G

p.K2237R

28.8

-

Callaghan2019 G

SPTBN2

DEASD_0346_001

chr11:
66453370-66453370

C

T

exonic

De novo

nonsynonymous SNV

NM_006946

c.G7145A

p.R2382H

26.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTBN2

SP0144084

chr11:
66472163-66472163

C

T

exonic

De novo

nonsynonymous SNV

NM_006946

c.G2584A

p.G862R

18.72

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN2

SP0120688

chr11:
66455060-66455060

C

T

exonic

De novo

nonsynonymous SNV

NM_006946

c.G6560A

p.R2187Q

13.23

1.705E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN2

NDAR_INVLR026ZEP_wes1

chr11:
66488522-66488522

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

SPTBN2

SP0005693

chr11:
66472229-66472229

G

A

exonic

De novo

nonsynonymous SNV

NM_006946

c.C2518T

p.R840W

16.09

4.729E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN2

EGAN00001101281

chr11:
66482759-66482759

A

G

exonic

De novo

synonymous SNV

NM_006946

c.T417C

p.H139H

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTBN2

2-1629-003

chr11:
66477606-66477606

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN2

SP0096085

chr11:
66472719-66472719

G

A

exonic

De novo

synonymous SNV

NM_006946

c.C2028T

p.A676A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN2

SP0020602

chr11:
66468516-66468516

C

T

exonic

De novo

synonymous SNV

NM_006946

c.G3054A

p.L1018L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN2

SP0107296

chr11:
66473333-66473333

A

G

intronic

De novo

-

9.99E-6

Fu2022 E
Trost2022 G

SPTBN2

SP0065763

chr11:
66476484-66476484

G

A

exonic

De novo

synonymous SNV

NM_006946

c.C1080T

p.T360T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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