Variant Results

or

Results for "SPATA31D1"

Variant Events: 66

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

SPATA31D1

11089.p1

chr9:
84752436-84752436

T

C

intergenic

De novo

-

Turner2016 G

SPATA31D1

2-0289-003

chr9:
84856428-84856428

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

12175.p1

chr9:
84756123-84756123

G

T

intergenic

De novo

-

Turner2016 G

SPATA31D1

2-1300-003

chr9:
84878418-84878432

GCACACACACACACA

GCACACACACACA

intergenic

De novo

-

Yuen2017 G

SPATA31D1

14637.p1

chr9:
84756145-84756145

C

T

intergenic

De novo

-

Turner2016 G

SPATA31D1

14637.p1

chr9:
84756147-84756147

C

T

intergenic

De novo

-

Turner2016 G

SPATA31D1

12175.p1

chr9:
84756129-84756129

A

G

intergenic

De novo

-

Turner2016 G

SPATA31D1

1-0045-004

chr9:
85372645-85372645

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

12175.p1

chr9:
84756145-84756145

C

T

intergenic

De novo

-

Turner2016 G

SPATA31D1

AU4219302

chr9:
85006652-85006652

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

14642.p1

chr9:
85179847-85179847

A

G

intergenic

De novo

-

Turner2016 G

SPATA31D1

AU4235303

chr9:
84737517-84737522

TGTAGT

TGT

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU4211304

chr9:
85479281-85479281

C

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

SP0098672

chr9:
84608061-84608061

T

G

exonic

De novo

nonsynonymous SNV

NM_001001670

c.T2676G

p.I892M

7.11

-

Fu2022 E

SPATA31D1

2-1264-003

chr9:
85140767-85140767

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPATA31D1

7-0129-003

chr9:
85387494-85387494

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU3997302

chr9:
84747298-84747298

T

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0978-003

chr9:
85587357-85587357

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0489-003

chr9:
85423955-85423955

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0102-004

chr9:
85202188-85202192

GTTAA

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0238-003

chr9:
85440308-85440308

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU4336301

chr9:
84954133-84954133

A

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

Shi2013:1

chr9:
84607127-84607127

T

A

exonic

Inherited

nonsynonymous SNV

NM_001001670

c.T1742A

p.L581Q

0.013

-

Shi2013 G

SPATA31D1

74-0688

chr9:
85574933-85574933

A

C

intergenic

De novo

-

Michaelson2012 G

SPATA31D1

1-0898-003

chr9:
85099510-85099510

A

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU3713302

chr9:
85359295-85359295

C

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU075703

chr9:
84888814-84888814

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU072004

chr9:
85460786-85460786

A

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU4392302

chr9:
84705132-84705132

C

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU2019302

chr9:
85075157-85075157

C

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0045-003

chr9:
85478592-85478592

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU3891302

chr9:
85016210-85016210

T

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0025-006

chr9:
85525566-85525566

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

5-0125-003

chr9:
84824296-84824296

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

11948.p1

chr9:
85283827-85283827

C

T

intergenic

De novo

-

Wilfert2021 G

SPATA31D1

1-0571-003

chr9:
84635823-84635823

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

5-0042-003

chr9:
84845501-84845501

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0318-004

chr9:
84708606-84708606

A

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

14410.p1

chr9:
85225031-85225031

G

A

intergenic

De novo

-

Werling2018 G

SPATA31D1

AU003405

chr9:
85147340-85147340

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU2433302

chr9:
84618620-84618620

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0081-003

chr9:
85211669-85211669

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1085-004

chr9:
85408571-85408571

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0081-003

chr9:
84880083-84880083

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0081-003

chr9:
85313435-85313435

T

TAAC

intergenic

De novo

-

Yuen2017 G

SPATA31D1

Shi2013:2

chr9:
84607127-84607127

T

A

exonic

Inherited

nonsynonymous SNV

NM_001001670

c.T1742A

p.L581Q

0.013

-

Shi2013 G

SPATA31D1

A32

chr9:
84705788-84705788

G

A

intergenic

De novo

-

Wu2018 G

SPATA31D1

1-0547-003

chr9:
84702528-84702528

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU4093304

chr9:
85156799-85156799

A

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU1860302

chr9:
85212729-85212729

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1629-003

chr9:
84645509-84645509

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0253-005

chr9:
85372652-85372652

G

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU4234303

chr9:
85537597-85537597

C

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1266-003

chr9:
85119714-85119714

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SPATA31D1

AU026412

chr9:
85551660-85551660

C

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0296-004

chr9:
85065214-85065214

T

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0323-003

chr9:
84733651-84733651

C

T

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0486-003

chr9:
85271410-85271410

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-0214-003

chr9:
85443967-85443967

T

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0232-004

chr9:
84878739-84878739

A

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU3900301

chr9:
84980958-84980958

A

G

intergenic

De novo

-

Yuen2017 G

SPATA31D1

1-0985-003

chr9:
84764830-84764830

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1738-003

chr9:
85147703-85147703

G

A

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1350-003

chr9:
84664072-84664074

CAG

C

intergenic

De novo

-

Yuen2017 G

SPATA31D1

2-1086-004

chr9:
85068143-85068143

G

GAAGC

intergenic

De novo

-

Yuen2017 G

SPATA31D1

AU056204

chr9:
85150687-85150687

A

C

intergenic

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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