Variant Results

or

or

Results for "SPTB"

Variant Events: 20

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

SPTB

JASD_Fam0080

chr14:
65220412-65220412

T

C

exonic

De novo

nonsynonymous SNV

NM_001024858

c.A6445G

p.T2149A

6.447

-

Takata2018 E

SPTB

SP0031986

chr14:
65233334-65233334

C

T

UTR3

De novo

-

-

Fu2022 E

SPTB

AU1404302

chr14:
65351451-65351451

C

T

intergenic

De novo

-

-

Yuen2017 G

SPTB

SP0071989

chr14:
65289729-65289729

G

A

exonic

De novo

synonymous SNV

NM_000347
NM_001024858

c.C84T
c.C84T

p.D28D
p.D28D

-

Fu2022 E

SPTB

SP0031495

chr14:
65258598-65258598

G

A

intronic

De novo

-

-

Fu2022 E

SPTB

08C79630

chr14:
65249067-65249067

G

A

exonic

De novo

nonsynonymous SNV

NM_000347
NM_001024858

c.C4207T
c.C4207T

p.R1403W
p.R1403W

24.1

Satterstrom2020 E

SPTB

1726002

chr14:
65262278-65262278

T

C

exonic

De novo

nonsynonymous SNV

NM_000347
NM_001024858

c.A1421G
c.A1421G

p.Y474C
p.Y474C

20.4

-

Fu2022 E

SPTB

SP0103630

chr14:
65253070-65253070

A

C

intronic

De novo

-

-

Fu2022 E

SPTB

AU218A

chr14:
65253441-65253441

T

C

exonic

De novo

nonsynonymous SNV

NM_000347
NM_001024858

c.A3242G
c.A3242G

p.Q1081R
p.Q1081R

16.34

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SPTB

2-1336-004

chr14:
65220298-65220298

G

A

exonic

De novo

nonsynonymous SNV

NM_001024858

c.C6559T

p.R2187C

27.2

Yuen2017 G

SPTB

SP0127515

chr14:
65239605-65239605

T

C

exonic

De novo

nonsynonymous SNV

NM_000347
NM_001024858

c.A5246G
c.A5246G

p.N1749S
p.N1749S

4.875

Fu2022 E

SPTB

Shi2013:2

chr14:
65237675-65237675

A

G

exonic

Inherited

nonsynonymous SNV

NM_000347
NM_001024858

c.T5726C
c.T5726C

p.F1909S
p.F1909S

27.6

Shi2013 G

SPTB

SP0096205

chr14:
65266487-65266487

G

A

exonic

De novo

nonsynonymous SNV

NM_000347
NM_001024858

c.C1042T
c.C1042T

p.R348C
p.R348C

22.1

Fu2022 E

SPTB

Shi2013:1

chr14:
65237675-65237675

A

G

exonic

Inherited

nonsynonymous SNV

NM_000347
NM_001024858

c.T5726C
c.T5726C

p.F1909S
p.F1909S

27.6

Shi2013 G

SPTB

AU3874303

chr14:
65293348-65293348

T

C

intergenic

De novo

-

-

Yuen2017 G

SPTB

SP0041020

chr14:
65267627-65267627

G

A

intronic

De novo

-

-

Fu2022 E

SPTB

PN400246

chr14:
65271803-65271803

G

A

exonic

Unknown

nonsynonymous SNV

NM_000347
NM_001024858

c.C154T
c.C154T

p.R52W
p.R52W

22.5

-

Leblond2019 E

SPTB

SP0147962

chr14:
65220172-65220172

C

T

intronic

De novo

-

-

Fu2022 E

SPTB

1-0339-004

chr14:
65320636-65320636

G

A

intergenic

De novo

-

-

Yuen2017 G

SPTB

PN400323

chr14:
65237717-65237717

C

A

exonic

Unknown

nonsynonymous SNV

NM_000347
NM_001024858

c.G5684T
c.G5684T

p.R1895L
p.R1895L

29.5

-

Leblond2019 E

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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