Variant Results

or

or

Results for "SPEF2"

Variant Events: 19

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

SPEF2

11372.p1

chr5:
35667380-35667380

A

G

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

SPEF2

1-0473-003

chr5:
35719056-35719056

A

C

intronic

De novo

-

-

Yuen2017 G

SPEF2

1-0745-003

chr5:
35843295-35843295

T

G

intergenic

De novo

-

-

Yuen2017 G

SPEF2

1-0161-003

chr5:
35708783-35708783

C

CA

intronic

De novo

-

-

Yuen2017 G

SPEF2

5-0137-003

chr5:
35691509-35691509

C

T

intronic

De novo

-

-

Yuen2017 G

SPEF2

AU0638302

chr5:
35723934-35723934

A

G

intronic

De novo

-

-

Yuen2017 G

SPEF2

3-0109-000

chr5:
35740319-35740319

G

A

exonic

De novo

nonsynonymous SNV

NM_024867

c.G3280A

p.D1094N

32.0

-

Tammimies2015 E

SPEF2

AU2975302

chr5:
35766697-35766697

A

G

intronic

De novo

-

-

Yuen2017 G

SPEF2

AU025704

chr5:
35722096-35722096

G

T

intronic

De novo

-

-

Yuen2017 G

SPEF2

AU4176302

chr5:
35629797-35629797

C

T

intronic

De novo

-

-

Yuen2017 G

SPEF2

11089.p1

chr5:
35690310-35690310

A

T

intronic

De novo

-

-

Turner2016 G

SPEF2

11089.p1

chr5:
35690312-35690312

G

T

intronic

De novo

-

-

Turner2016 G

SPEF2

iHART3059

chr5:
35659140-35659142

AGC

A

exonic

Paternal

frameshift deletion

NM_024867
NM_144722

c.999_1000del
c.999_1000del

p.Q333fs
p.Q333fs

-

Ruzzo2019 G

SPEF2

AU005214

chr5:
35664060-35664060

A

T

intronic

De novo

-

-

Yuen2017 G

SPEF2

13230.p1

chr5:
35691412-35691412

T

C

intronic

Mosaic

-

-

Dou2017 E

SPEF2

SP0063846

chr5:
35710044-35710044

T

A

intronic

De novo

-

-

Fu2022 E

SPEF2

1-0246-005

chr5:
35657404-35657404

A

T

intronic

De novo

-

-

Yuen2017 G

SPEF2

1-0534-003

chr5:
35708651-35708651

C

CCA

intronic

De novo

-

-

Yuen2017 G

SPEF2

1-0051-005

chr5:
35737259-35737259

C

T

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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