Variant Results

or

Results for "SPATA13"

Variant Events: 16

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

SPATA13

2-1375-003

chr13:
24673645-24673645

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SPATA13

AU3839302

chr13:
24701244-24701244

G

T

intronic

De novo

-

Yuen2017 G

SPATA13

AU3638302

chr13:
24861584-24861586

AGC

AC

intronic

De novo

-

Yuen2017 G

SPATA13

2-0007-004

chr13:
24592360-24592360

G

A

intronic

De novo

-

Yuen2017 G

SPATA13

13515.p1

chr13:
24703148-24703148

C

T

intronic

De novo

-

Turner2016 G

SPATA13

1-0269-005

chr13:
24858604-24858604

G

T

intronic

De novo

-

Yuen2017 G

SPATA13

AU4212303

chr13:
24630814-24630814

C

A

intronic

De novo

-

Yuen2017 G

SPATA13

SP0001293

chr13:
24797252-24797252

C

G

exonic

De novo

nonsynonymous SNV

NM_001166271
NM_001286792

c.C185G
c.C371G

p.T62S
p.T124S

9.787

-

Feliciano2019 E
Fu2022 E

SPATA13

2-1522-003

chr13:
24864608-24864608

C

T

intronic

De novo

-

Yuen2017 G

SPATA13

AU2140306

chr13:
24791364-24791366

CTT

CT

intronic

De novo

-

Yuen2017 G

SPATA13

12652.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001166271
NM_001286792
NM_001166271
NM_001286792

c.381delC
c.567delC
c.382delC
c.568delC

p.S127fs
p.S189fs
p.R128fs
p.R190fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E

SPATA13

5-0033-004

chr13:
24778543-24778545

CAG

C

intronic

De novo

-

Yuen2017 G

SPATA13

5-0065-003

chr13:
24799535-24799535

G

A

intronic

De novo

-

Yuen2017 G

SPATA13

SP0036240

chr13:
24876724-24876724

C

G

intronic

De novo

-

Fu2022 E

SPATA13

AU074403

chr13:
24582426-24582426

T

A

intronic

De novo

-

Yuen2017 G

SPATA13

AU4483301

chr13:
24841720-24841721

GC

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
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