Variant Results

or

Results for "SPHKAP"

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

SPHKAP

3-0721-000

chr2:
229035891-229035891

G

C

intronic

De novo

-

Trost2022 G

SPHKAP

3-0721-000

chr2:
229036472-229036472

G

T

intronic

De novo

-

Trost2022 G

SPHKAP

MSSNG00002-004

chr2:
229015786-229015786

C

T

intronic

De novo

-

Trost2022 G

SPHKAP

7-0501-003

chr2:
229015895-229015895

C

T

intronic

De novo

-

Trost2022 G

SPHKAP

12175.p1

chr2:
229044769-229044769

C

G

intronic

De novo

-

Turner2016 G

SPHKAP

11456.p1

chr2:
229210910-229210910

G

T

intergenic

De novo

-

Turner2016 G

SPHKAP

7-0191-003

chr2:
228951660-228951660

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

1-0567-003

chr2:
229859259-229859259

C

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

7-0191-003

chr2:
228983651-228983651

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

AU4246304

chr2:
228941090-228941090

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

1-0484-003

chr2:
228999177-228999177

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

11456.p1

chr2:
229210912-229210912

G

T

intergenic

De novo

-

Turner2016 G

SPHKAP

2-0270-004

chr2:
229478395-229478395

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU2427302

chr2:
229614520-229614520

C

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU2863302

chr2:
229406072-229406072

C

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

SP0106922

chr2:
228890059-228890059

T

G

intronic

De novo

-

Fu2022 E

SPHKAP

SP0054566

chr2:
228890059-228890059

T

G

intronic

De novo

-

Fu2022 E

SPHKAP

AU2792302

chr2:
229741602-229741602

T

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

SP0025581

chr2:
228882279-228882279

G

A

exonic

De novo

synonymous SNV

NM_001142644
NM_030623

c.C3291T
c.C3291T

p.V1097V
p.V1097V

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPHKAP

SP0042780

chr2:
228883463-228883463

C

A

exonic

De novo

nonsynonymous SNV

NM_001142644
NM_030623

c.G2107T
c.G2107T

p.D703Y
p.D703Y

16.92

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPHKAP

2-0270-003

chr2:
229868734-229868734

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

160622

chr2:
228883781-228883781

C

T

exonic

De novo

nonsynonymous SNV

NM_001142644
NM_030623

c.G1789A
c.G1789A

p.E597K
p.E597K

9.657

-

Fu2022 E

SPHKAP

AU3632301

chr2:
229621054-229621054

T

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU046707

chr2:
229428145-229428145

T

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

2-0299-005

chr2:
229750999-229750999

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU072504

chr2:
229111631-229111631

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU2427301

chr2:
229614520-229614520

C

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

5-0046-003

chr2:
229843957-229843957

C

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

5-0116-003

chr2:
229629001-229629001

A

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU0780302

chr2:
229692273-229692273

C

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

1-0344-003

chr2:
229438120-229438120

T

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU3125301

chr2:
229369300-229369300

C

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU3955303

chr2:
229289286-229289286

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

1-0568-003

chr2:
229191967-229191967

A

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

2-0295-004

chr2:
228882214-228882214

T

A

exonic

De novo

nonsynonymous SNV

NM_001142644
NM_030623

c.A3356T
c.A3356T

p.Q1119L
p.Q1119L

21.4

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

SPHKAP

AU073003

chr2:
229675975-229675975

A

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

1-0191-003

chr2:
229411416-229411416

G

A

intergenic

De novo

-

Yuen2017 G

SPHKAP

1-0141-003

chr2:
229415681-229415681

T

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU3368302

chr2:
229644735-229644735

A

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU3811301

chr2:
228903253-228903253

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

AU1933302

chr2:
229253305-229253305

A

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

3-0442-000

chr2:
229350452-229350452

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPHKAP

2-1291-003

chr2:
229837542-229837542

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPHKAP

1-0324-003

chr2:
228964336-228964336

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

2-1223-003

chr2:
229400659-229400659

C

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU076704

chr2:
229028424-229028424

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

11981.p1

chr2:
228846400-228846400

G

T

UTR3

De novo

-

Satterstrom2020 E

SPHKAP

Costa2023:P24-1

chr2:
228855786-228855786

C

T

exonic

De novo

stopgain

NM_030623
NM_001142644

c.G4802A
c.G4889A

p.W1601X
p.W1630X

44.0

-

Costa2023 E

SPHKAP

7-0161-003

chr2:
229251634-229251634

A

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

AU003403

chr2:
229529835-229529835

G

T

intergenic

De novo

-

Yuen2017 G

SPHKAP

1-0871-003

chr2:
228911747-228911747

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPHKAP

AU2075302

chr2:
229614747-229614747

C

G

intergenic

De novo

-

Yuen2017 G

SPHKAP

5-0033-004

chr2:
229720707-229720715

CCATAGCCA

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

4-0069-003

chr2:
228995319-228995319

T

C

intronic

De novo

-

Trost2022 G

SPHKAP

2-0159-003

chr2:
229012081-229012081

G

GT

intronic

De novo

-

Trost2022 G

SPHKAP

MSSNG00116-003

chr2:
228935741-228935741

G

A

intronic

De novo

-

Trost2022 G

SPHKAP

MSSNG00125-003

chr2:
228970968-228970968

T

C

intronic

De novo

-

Trost2022 G

SPHKAP

MSSNG00106-003

chr2:
228918897-228918897

C

T

intronic

De novo

-

Trost2022 G

SPHKAP

AU4485302

chr2:
228927902-228927902

G

A

intronic

De novo

-

Trost2022 G

SPHKAP

AU2793301

chr2:
229797755-229797755

T

C

intergenic

De novo

-

Yuen2017 G

SPHKAP

SSC05002

chr2:
228846400-228846400

G

T

UTR3

De novo

-

Trost2022 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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