Variant Results

or

Results for "SPTBN1"

Variant Events: 61

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

SPTBN1

2-1437-003

chr2:
54727329-54727329

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN1

2-1345-003

chr2:
54700408-54700408

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SPTBN1

2-0158-003

chr2:
54819759-54819759

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN1

2-1594-003

chr2:
54905008-54905008

G

A

intergenic

De novo

-

Yuen2017 G

SPTBN1

mAGRE5983

chr2:
54864845-54864851

AATAGAC

A

exonic

Maternal

frameshift deletion

NM_178313
NM_003128

c.3729_3730del
c.3768_3769del

p.R1243fs
p.R1256fs

-

Cirnigliaro2023 G

SPTBN1

2-0182-003

chr2:
54715577-54715578

TC

T

intronic

De novo

-

Yuen2017 G

SPTBN1

5-0117-003

chr2:
54815010-54815010

A

G

intronic

De novo

-

Yuen2017 G

SPTBN1

1-0901-004

chr2:
54827435-54827436

AG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN1

AU4263304

chr2:
54874241-54874241

G

C

intronic

De novo

-

Yuen2017 G

SPTBN1

270-08-110148

chr2:
54851968-54851968

C

A

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.C1171A
c.C1210A

p.H391N
p.H404N

31.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTBN1

PN400240

chr2:
54856784-54856784

C

T

exonic

Unknown

nonsynonymous SNV

NM_178313
NM_003128

c.C2474T
c.C2513T

p.T825M
p.T838M

29.5

-

Leblond2019 E

SPTBN1

2-1283-004

chr2:
54749851-54749851

A

AG

intronic

De novo

-

Yuen2017 G

SPTBN1

AU046707

chr2:
54738948-54738948

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN1

AU046707

chr2:
54740937-54740937

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPTBN1

13882_p1

chr2:
54857033-54857033

G

T

exonic

De novo

stopgain

NM_178313
NM_003128

c.G2635T
c.G2674T

p.E879X
p.E892X

43.0

-

Fu2022 E

SPTBN1

Li2017:19773

chr2:
54880962-54880962

C

T

exonic

Unknown

nonsynonymous SNV

NM_178313
NM_003128

c.C5755T
c.C5794T

p.R1919W
p.R1932W

33.0

-

Li2017 T

SPTBN1

36161

chr2:
54858514-54858514

G

C

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G3291C
c.G3330C

p.E1097D
p.E1110D

18.12

-

Fu2022 E
Trost2022 G

SPTBN1

10802

chr2:
54839397-54839397

G

C

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G361C
c.G400C

p.G121R
p.G134R

34.0

-

Fu2022 E

SPTBN1

11350_p1

chr2:
54856896-54856896

G

T

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G2586T
c.G2625T

p.M862I
p.M875I

16.9

-

Fu2022 E

SPTBN1

AU066818

chr2:
54935607-54935607

G

C

intergenic

De novo

-

Yuen2017 G

SPTBN1

12517.p1

chr2:
54882174-54882174

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SPTBN1

PN400241

chr2:
54856784-54856784

C

T

exonic

Unknown

nonsynonymous SNV

NM_178313
NM_003128

c.C2474T
c.C2513T

p.T825M
p.T838M

29.5

-

Leblond2019 E

SPTBN1

1-1105-003

chr2:
54739306-54739306

G

T

intronic

De novo

-

Trost2022 G

SPTBN1

1-0354-006

chr2:
54736846-54736847

AT

TG

intronic

De novo

-

Trost2022 G

SPTBN1

SP0207020

chr2:
54839463-54839463

C

T

exonic

nonsynonymous SNV

NM_178313
NM_003128

c.C427T
c.C466T

p.R143C
p.R156C

27.9

-

Zhou2022 GE

SPTBN1

MSSNG00029-004

chr2:
54749846-54749846

A

G

intronic

De novo

-

Trost2022 G

SPTBN1

MT_82.3

chr2:
54741039-54741039

A

G

intronic

De novo

-

Trost2022 G

SPTBN1

3-0295-000

chr2:
54682615-54682615

G

C

upstream

De novo

-

Trost2022 G

SPTBN1

Lim2017:36161

chr2:
54858514-54858514

G

C

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G3291C
c.G3330C

p.E1097D
p.E1110D

18.12

-

Lim2017 E

SPTBN1

MSSNG00386-003

chr2:
54736408-54736408

C

T

intronic

De novo

-

Trost2022 G

SPTBN1

1031

chr2:
54859854-54859854

G

A

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G3677A
c.G3716A

p.G1226E
p.G1239E

16.2

-

Trost2022 G
Zhou2022 GE

SPTBN1

2-1763-003

chr2:
54696447-54696447

C

A

intronic

De novo

-

Trost2022 G

SPTBN1

REACH000233

chr2:
54821997-54821997

G

T

intronic

De novo

-

Trost2022 G

SPTBN1

SP0025073

chr2:
54873644-54873644

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

SPTBN1

P6Q4Z_01

chr2:
54821997-54821997

G

T

intronic

De novo

-

Trost2022 G

SPTBN1

3-0072-000

chr2:
54838268-54838268

T

C

intronic

De novo

-

Trost2022 G

SPTBN1

3-0647-000

chr2:
54834740-54834740

C

A

intronic

De novo

-

Trost2022 G

SPTBN1

SP0016598

chr2:
54856676-54856676

C

T

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.C2366T
c.C2405T

p.T789M
p.T802M

16.72

1.655E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN1

SP0224565

chr2:
54874332-54874332

A

C

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.A4892C
c.A4931C

p.Y1631S
p.Y1644S

21.8

-

Trost2022 G
Zhou2022 GE

SPTBN1

4-0019-003

chr2:
54803684-54803684

G

GTTGC

intronic

De novo

-

Trost2022 G

SPTBN1

AU2371303

chr2:
54858382-54858382

G

A

exonic

De novo

synonymous SNV

NM_178313
NM_003128

c.G3159A
c.G3198A

p.Q1053Q
p.Q1066Q

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTBN1

SP0219869

chr2:
54857070-54857070

G

A

exonic

nonsynonymous SNV

NM_178313
NM_003128

c.G2672A
c.G2711A

p.R891Q
p.R904Q

18.72

-

Zhou2022 GE

SPTBN1

5-0038-003

chr2:
54802414-54802415

AC

A

intronic

De novo

-

Trost2022 G

SPTBN1

SP0081167

chr2:
54872603-54872603

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

SPTBN1

SP0309449

chr2:
54895638-54895638

G

T

exonic

nonsynonymous SNV

NM_003128

c.G7027T

p.G2343C

16.28

8.329E-6

Zhou2022 GE

SPTBN1

3-0294-000

chr2:
54818224-54818224

T

C

intronic

De novo

-

Trost2022 G

SPTBN1

SP0007976

chr2:
54785720-54785720

G

C

UTR5

De novo

-

Fu2022 E
Trost2022 G

SPTBN1

SP0143622

chr2:
54893167-54893167

G

T

exonic

stopgain

NM_003128

c.G6775T

p.E2259X

50.0

-

Zhou2022 GE

SPTBN1

2-1548-003

chr2:
54814216-54814216

G

A

intronic

De novo

-

Trost2022 G

SPTBN1

MSSNG00032-004

chr2:
54838618-54838618

T

C

intronic

De novo

-

Trost2022 G

SPTBN1

Li2017:18472

chr2:
54856594-54856594

G

A

exonic

Unknown

nonsynonymous SNV

NM_178313
NM_003128

c.G2284A
c.G2323A

p.D762N
p.D775N

24.5

8.275E-6

Li2017 T

SPTBN1

AU076509

chr2:
54910329-54910331

GGA

GGAGA

intergenic

De novo

-

Yuen2017 G

SPTBN1

AU2248302

chr2:
54766169-54766175

CAAGAAA

CAA

intronic

De novo

-

Yuen2017 G

SPTBN1

SSC09364

chr2:
54857033-54857033

G

T

exonic

stopgain

NM_178313
NM_003128

c.G2635T
c.G2674T

p.E879X
p.E892X

43.0

-

Antaki2022 GE

SPTBN1

13882.p1

chr2:
54857033-54857033

G

T

exonic

De novo

stopgain

NM_178313
NM_003128

c.G2635T
c.G2674T

p.E879X
p.E892X

43.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SPTBN1

SP0066915

chr2:
54843401-54843401

G

A

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G493A
c.G532A

p.A165T
p.A178T

36.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN1

14402.p1

chr2:
54858514-54858514

G

C

exonic

De novo

nonsynonymous SNV

NM_178313
NM_003128

c.G3291C
c.G3330C

p.E1097D
p.E1110D

18.12

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SPTBN1

SP0081725

chr2:
54870170-54870170

C

G

exonic

De novo

stopgain

NM_178313
NM_003128

c.C3870G
c.C3909G

p.Y1290X
p.Y1303X

43.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SPTBN1

AU2248302

chr2:
54694737-54694737

G

C

intronic

De novo

-

Yuen2017 G

SPTBN1

AU2248302

chr2:
54702654-54702654

A

G

intronic

De novo

-

Yuen2017 G

SPTBN1

AU2248302

chr2:
54728362-54728362

G

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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