Variant Results

or

Results for "SPTBN1"

Variant Events: 27

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

-

Yuen2017 G

SPTBN1

2-1345-003

chr2:
54700408-54700408

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

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

2-0158-003

chr2:
54819759-54819759

A

G

intronic

De novo

-

Yuen2017 G

SPTBN1

2-1594-003

chr2:
54905008-54905008

G

A

intergenic

De novo

-

Yuen2017 G

SPTBN1

2-0182-003

chr2:
54715577-54715578

TC

T

intronic

De novo

-

Yuen2017 G

SPTBN1

AU066818

chr2:
54935607-54935607

G

C

intergenic

De novo

-

Yuen2017 G

SPTBN1

5-0117-003

chr2:
54815010-54815010

A

G

intronic

De novo

-

Yuen2017 G

SPTBN1

12517.p1

chr2:
54882174-54882174

C

T

intronic

De novo

-

Satterstrom2020 E

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

1-0901-004

chr2:
54827435-54827436

AG

A

intronic

De novo

-

Yuen2017 G

SPTBN1

AU4263304

chr2:
54874241-54874241

G

C

intronic

De novo

-

Yuen2017 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

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

-

Satterstrom2020 E

SPTBN1

AU2371303

chr2:
54858382-54858382

G

A

exonic

De novo

synonymous SNV

NM_178313
NM_003128

c.G3159A
c.G3198A

p.Q1053Q
p.Q1066Q

-

Satterstrom2020 E

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

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

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
Wilfert2021 G

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

SPTBN1

2-1283-004

chr2:
54749851-54749851

A

AG

intronic

De novo

-

Yuen2017 G

SPTBN1

AU046707

chr2:
54738948-54738948

C

T

intronic

De novo

-

Yuen2017 G

SPTBN1

AU2248302

chr2:
54694737-54694737

G

C

intronic

De novo

-

Yuen2017 G

SPTBN1

AU046707

chr2:
54740937-54740937

A

G

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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