Variant Results

or

Results for "SPAG16"

Variant Events: 57

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

SPAG16

AU3702306

chr2:
215103705-215103705

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

AU2525302

chr2:
214265139-214265141

AGG

AG

intronic

De novo

-

Yuen2017 G

SPAG16

A18

chr2:
214501933-214501933

A

T

intronic

De novo

-

Wu2018 G

SPAG16

1-0181-004

chr2:
214261960-214261960

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

AU1955302

chr2:
214440230-214440230

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

AU071804

chr2:
214537581-214537584

TTGT

TT

intronic

De novo

-

Yuen2017 G

SPAG16

5-0147-003

chr2:
214894386-214894386

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

AU1848302

chr2:
214216391-214216391

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU047703

chr2:
214503205-214503205

A

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU1223301

chr2:
214828121-214828121

G

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU047703

chr2:
214506130-214506130

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU074503

chr2:
215158805-215158805

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

1-0556-003

chr2:
214149816-214149816

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

1-0763-003

chr2:
214702950-214702950

C

CAGTGG

intronic

De novo

-

Yuen2017 G

SPAG16

TRE_677

chr2:
214204911-214204911

A

G

exonic

De novo

synonymous SNV

NM_024532

c.A561G

p.K187K

-

Fu2022 E

SPAG16

1-0524-003

chr2:
214695293-214695293

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

5-0088-003

chr2:
214713206-214713206

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

2-1352-003

chr2:
214511063-214511063

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

2-1549-003

chr2:
214867250-214867265

AAGAGAGAGAGAGAGA

AAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

SPAG16

1-0656-003

chr2:
214353695-214353695

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

2-0006-004

chr2:
214429341-214429341

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

3-0469-000

chr2:
214210689-214210689

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU024608

chr2:
214343456-214343456

G

C

intronic

De novo

-

Yuen2017 G

SPAG16

AU4093304

chr2:
214499768-214499768

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

2-0012-003

chr2:
214201694-214201694

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

PN400326

chr2:
214878694-214878698

TTGTA

T

exonic

Unknown

frameshift deletion

NM_024532

c.1421_1424del

p.L474fs

-

0.0018

Leblond2019 E

SPAG16

AU3190305

chr2:
214753151-214753151

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

2-1254-003

chr2:
214197899-214197899

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

1-0305-004

chr2:
214202386-214202388

CAA

C

intronic

De novo

-

Yuen2017 G

SPAG16

5-0015-003

chr2:
215045448-215045448

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

2-1086-004

chr2:
214852180-214852180

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

AU4394302

chr2:
214302093-214302093

A

T

intronic

De novo

-

Yuen2017 G

SPAG16

2-1508-003

chr2:
214380574-214380574

G

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU045010

chr2:
214481588-214481588

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

AU4054301

chr2:
214715423-214715423

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

1-1000-003

chr2:
214792353-214792353

T

C

intronic

De novo

-

Yuen2017 G

SPAG16

AU3811301

chr2:
214487078-214487078

C

A

intronic

De novo

-

Yuen2017 G

SPAG16

2-1178-003

chr2:
214190551-214190551

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

AU1933302

chr2:
215037762-215037762

T

G

intronic

De novo

-

Yuen2017 G

SPAG16

AU4234302

chr2:
215208387-215208387

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

7-0106-003

chr2:
214160881-214160881

A

T

intronic

De novo

-

Yuen2017 G

SPAG16

1-0339-004

chr2:
215174873-215174873

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

2-1291-003

chr2:
215118519-215118519

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

2-1391-004

chr2:
214338600-214338600

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

A25

chr2:
214637737-214637737

A

G

intronic

De novo

-

Wu2018 G

SPAG16

AU3702307

chr2:
214543362-214543362

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

AU3764302

chr2:
214262466-214262466

C

A

intronic

De novo

-

Yuen2017 G

SPAG16

AU3857301

chr2:
215075532-215075532

A

G

intronic

De novo

-

Yuen2017 G

SPAG16

13874.p1

chr2:
215010331-215010331

A

G

intronic

De novo

-

Turner2016 G

SPAG16

2-1105-003

chr2:
214276684-214276684

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

AU047904

chr2:
214396588-214396588

C

T

intronic

De novo

-

Yuen2017 G

SPAG16

1-0300-004

chr2:
214721827-214721827

G

A

intronic

De novo

-

Yuen2017 G

SPAG16

2-0081-003

chr2:
214791679-214791679

A

C

intronic

De novo

-

Yuen2017 G

SPAG16

2-1428-003

chr2:
214358538-214358538

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

1-0150-004

chr2:
214812042-214812042

T

A

intronic

De novo

-

Yuen2017 G

SPAG16

1-0493-003

chr2:
214357017-214357017

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPAG16

1-0068-003

chr2:
215111977-215111977

A

G

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
	More