Variant Results

or

Results for "SCHIP1"

Variant Events: 39

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

SCHIP1

2-1359-003

chr3:
159535851-159535851

C

T

intronic

De novo

-

Yuen2017 G

SCHIP1

AU4013303

chr3:
159108777-159108777

G

A

intronic

De novo

-

Yuen2017 G

SCHIP1

AU2089301

chr3:
159396633-159396633

C

T

intronic

De novo

-

Yuen2017 G

SCHIP1

1-0299-003

chr3:
159120520-159120520

T

C

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1359-003

chr3:
159547492-159547492

G

T

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1359-003

chr3:
159539523-159539523

A

C

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1210-003

chr3:
159613941-159613941

T

C

intronic

De novo

-

Yuen2017 G

SCHIP1

AU3702306

chr3:
159387732-159387732

G

A

intronic

De novo

-

Yuen2017 G

SCHIP1

AU2000304

chr3:
159207358-159207358

C

T

intronic

De novo

-

Yuen2017 G

SCHIP1

2-0320-003

chr3:
159104787-159104787

C

T

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1690-003

chr3:
159401707-159401724

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

SCHIP1

3-0428-000

chr3:
159412394-159412394

A

G

intronic

De novo

-

Yuen2017 G

SCHIP1

AU3875301

chr3:
159205392-159205399

CTCTATCT

CTCT

intronic

De novo

-

Yuen2017 G

SCHIP1

2-0144-003

chr3:
159156608-159156608

C

A

intronic

De novo

-

Yuen2017 G

SCHIP1

1-0841-003

chr3:
159493503-159493503

G

A

intronic

De novo

-

Yuen2017 G

SCHIP1

7-0127-003

chr3:
159607808-159607808

C

T

intronic

De novo

-

Yuen2017 G

SCHIP1

1-0985-003

chr3:
159401707-159401724

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

SCHIP1

1-0303-003

chr3:
158995317-158995317

A

G

intronic

De novo

-

Yuen2017 G

SCHIP1

AU3727302

chr3:
159066591-159066591

T

C

intronic

De novo

-

Yuen2017 G

SCHIP1

5-0138-003

chr3:
159068519-159068519

T

G

intronic

De novo

-

Yuen2017 G

SCHIP1

13649.p1

chr3:
159232003-159232003

G

A

intronic

De novo

-

Turner2016 G

SCHIP1

AU3729301

chr3:
159101870-159101870

C

A

intronic

De novo

-

Yuen2017 G

SCHIP1

13951.p1

chr3:
159273990-159273990

G

A

intronic

De novo

-

Turner2016 G

SCHIP1

14637.p1

chr3:
159078371-159078371

C

T

intronic

De novo

-

Turner2016 G

SCHIP1

13324.p1

chr3:
159135402-159135402

C

T

intronic

De novo

-

Turner2016 G

SCHIP1

2-1632-003

chr3:
159111549-159111549

T

C

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1194-003

chr3:
159514867-159514878

TTTTGTTTGTTT

TTTTGTTT

intronic

De novo

-

Yuen2017 G

SCHIP1

1-0041-003

chr3:
159074979-159074979

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SCHIP1

AU2089302

chr3:
159436461-159436461

C

A

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1421-003

chr3:
159073017-159073017

C

G

intronic

De novo

-

Yuen2016 G

SCHIP1

5-0045-003

chr3:
159050943-159050943

G

A

intronic

De novo

-

Yuen2017 G

SCHIP1

AU066404

chr3:
159234276-159234276

A

G

intronic

De novo

-

Yuen2017 G

SCHIP1

AU062204

chr3:
159001473-159001473

T

A

intronic

De novo

-

Yuen2017 G

SCHIP1

12011.p1

chr3:
159604035-159604035

C

T

exonic

De novo

synonymous SNV

NM_001197108
NM_001197109
NM_001197107
NM_014575
NM_001197114
NM_001197113

c.C222T
c.C189T
c.C879T
c.C918T
c.C1065T
c.C1146T

p.N74N
p.N63N
p.N293N
p.N306N
p.N355N
p.N382N

-

7.0E-4

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Turner2016 G

SCHIP1

1-0464-003

chr3:
159537031-159537044

GGAGAGAGAGAGAG

GGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

SCHIP1

2-0319-003

chr3:
159551682-159551685

CTTG

C

intronic

De novo

-

Yuen2017 G

SCHIP1

2-1086-003

chr3:
159374723-159374723

G

C

intronic

De novo

-

Yuen2017 G

SCHIP1

2-0319-004

chr3:
159551682-159551685

CTTG

C

intronic

De novo

-

Yuen2017 G

SCHIP1

AU4260303

chr3:
159340999-159340999

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
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