Variant Results

or

or

Results for "SUN1"

Variant Events: 25

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

SUN1

AU1988302

chr7:
899742-899742

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SUN1

iHART3050

chr7:
891121-891121

T

G

splicing

Maternal

splicing

12.7

-

Ruzzo2019 G

SUN1

502-05-104237

chr7:
888218-888218

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SUN1

AU3051302

chr7:
891121-891121

T

G

splicing

Maternal

splicing

12.7

-

Cirnigliaro2023 G

SUN1

mAGRE5677

chr7:
857111-857121

CGGCTCCCCAG

C

exonic

Paternal

frameshift deletion

NM_001171945

c.19_28del

p.G7fs

-

-

Cirnigliaro2023 G

SUN1

1018

chr7:
876641-876641

C

A

intronic

De novo

-

-

Trost2022 G

SUN1

MSSNG00383-003

chr7:
878039-878039

G

A

intronic

De novo

-

-

Trost2022 G

SUN1

SP0045624

chr7:
888297-888297

C

CTCCACT

intronic

De novo

-

-

Fu2022 E

SUN1

2-1384-003

chr7:
896540-896540

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SUN1

SJD_75.3

chr7:
894325-894325

C

A

intronic

De novo

-

-

Trost2022 G

SUN1

5-5217-003

chr7:
909256-909256

C

A

intronic

De novo

-

-

Trost2022 G

SUN1

SP0087853

chr7:
890946-890946

C

T

intronic

De novo

-

-

Fu2022 E

SUN1

1-0253-004

chr7:
880480-880480

G

A

intronic

De novo

-

-

Trost2022 G

SUN1

SP0104874

chr7:
889221-889221

T

C

intronic

De novo

0.147

Fu2022 E
Zhou2022 GE

SUN1

5340

chr7:
890978-890978

T

G

intronic

De novo

-

Trost2022 G

SUN1

1-0253-004

chr7:
880467-880468

GC

AT

intronic

De novo

-

-

Trost2022 G

SUN1

SP0073414

chr7:
882975-882975

T

C

intronic

De novo

-

Fu2022 E
Zhou2022 GE

SUN1

1-0253-004

chr7:
880477-880477

A

T

intronic

De novo

-

-

Trost2022 G

SUN1

1-0051-005

chr7:
868724-868724

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SUN1

11303.p1

chr7:
890978-890978

T

G

intronic

De novo

-

Satterstrom2020 E

SUN1

1-0010-005

chr7:
890413-890413

A

AAAAC

intronic

De novo

-

-

Yuen2017 G

SUN1

1-0126-004

chr7:
862845-862847

GCA

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SUN1

701-04-102471

chr7:
889612-889612

G

T

intronic

De novo

7.431

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SUN1

14370.p1

chr7:
907786-907786

C

T

intronic

De novo

-

-

Turner2016 G

SUN1

MSSNG00051-003

chr7:
888218-888218

C

T

intronic

-

Zhou2022 GE

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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