Variant Results

or

Results for "SHISA9"

Variant Events: 76

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

SHISA9

74-0115

chr16:
13219055-13219055

A

C

intronic

De novo

-

Michaelson2012 G

SHISA9

2-0126-004

chr16:
13426787-13426787

G

C

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1562-004

chr16:
13243092-13243093

GA

G

intronic

De novo

-

Yuen2017 G

SHISA9

1-0560-003

chr16:
13919342-13919342

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

AU3900302

chr16:
13490720-13490720

T

A

intergenic

De novo

-

Yuen2017 G

SHISA9

AU3900302

chr16:
13490887-13490887

G

C

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1231-003

chr16:
13428718-13428718

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SHISA9

2-1529-003

chr16:
13176059-13176062

GACA

GA

intronic

De novo

-

Yuen2017 G

SHISA9

2-0306-003

chr16:
13507354-13507354

T

G

intergenic

De novo

-

Yuen2016 G

SHISA9

A22

chr16:
13630761-13630764

ATGT

A

intergenic

De novo

-

Wu2018 G

SHISA9

2-1730-003

chr16:
13115819-13115819

A

T

intronic

De novo

-

Yuen2017 G

SHISA9

2-1290-004

chr16:
13594046-13594046

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0175-004

chr16:
13486681-13486681

A

G

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1005-003

chr16:
13059264-13059275

ACTCCTTTCTCC

ACTCC

intronic

De novo

-

Yuen2017 G

SHISA9

2-1279-003

chr16:
13936606-13936606

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SHISA9

1-0512-003

chr16:
13691100-13691115

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

SHISA9

7-0250-003

chr16:
13119882-13119882

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

2-1152-003

chr16:
13313771-13313771

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SHISA9

2-1440-003

chr16:
13261361-13261361

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SHISA9

AU2129301

chr16:
13156193-13156193

A

G

intronic

De novo

-

Yuen2017 G

SHISA9

1-0175-003

chr16:
13486681-13486681

A

G

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1391-004

chr16:
13145347-13145347

C

T

intronic

De novo

-

Yuen2017 G

SHISA9

AU051504

chr16:
13047043-13047043

A

T

intronic

De novo

-

Yuen2017 G

SHISA9

1-0296-004

chr16:
13774148-13774148

T

A

intergenic

De novo

-

Yuen2017 G

SHISA9

AU3937301

chr16:
13433569-13433569

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0377-003

chr16:
13089250-13089250

A

C

intronic

De novo

-

Yuen2017 G

SHISA9

2-0007-003

chr16:
13082727-13082727

A

G

intronic

De novo

-

Yuen2017 G

SHISA9

1-0206-003

chr16:
13774466-13774466

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

2-0244-003

chr16:
13077636-13077636

T

G

intronic

De novo

-

Yuen2017 G

SHISA9

A17

chr16:
13966830-13966830

T

G

intergenic

De novo

-

Wu2018 G

SHISA9

AU3874301

chr16:
13265545-13265545

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

AU4159301

chr16:
13586424-13586424

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1437-003

chr16:
13815806-13815806

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1521-003

chr16:
13106885-13106898

GTCTCTCTCTCTCT

GTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

SHISA9

AU003406

chr16:
13877389-13877389

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

AU072905

chr16:
13669233-13669235

CCA

C

intergenic

De novo

-

Yuen2017 G

SHISA9

AU072905

chr16:
13669239-13669239

A

C

intergenic

De novo

-

Yuen2017 G

SHISA9

AU4306302

chr16:
13567150-13567150

G

C

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1176-003

chr16:
13003495-13003495

C

T

UTR3

De novo

-

Yuen2017 G

SHISA9

AU3517302

chr16:
13010813-13010813

A

G

intronic

De novo

-

Yuen2017 G

SHISA9

1-0049-004

chr16:
13129138-13129138

G

GTAA

intronic

De novo

-

Yuen2017 G

SHISA9

2-1323-003

chr16:
13346141-13346141

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SHISA9

AU008505

chr16:
13589757-13589757

A

T

intergenic

De novo

-

Yuen2017 G

SHISA9

AU4286302

chr16:
13077363-13077367

TGAGA

TGA

intronic

De novo

-

Yuen2017 G

SHISA9

1-0059-003

chr16:
13571771-13571771

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

2-0306-004

chr16:
13507354-13507354

T

G

intergenic

De novo

-

Yuen2017 G

SHISA9

2-0215-003

chr16:
13223967-13223967

T

A

intronic

De novo

-

Yuen2017 G

SHISA9

7-0002-003

chr16:
13222178-13222178

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

7-0222-003

chr16:
13070038-13070038

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

AU4412302

chr16:
13063423-13063423

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

2-0145-004

chr16:
13423933-13423933

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0559-003

chr16:
13569788-13569788

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0173-004

chr16:
13730355-13730355

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

11341.p1

chr16:
13065569-13065569

C

T

intronic

De novo

-

Turner2016 G

SHISA9

AU3777301

chr16:
13707475-13707475

T

A

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1163-003

chr16:
13583711-13583711

C

A

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0495-003

chr16:
13581321-13581321

G

T

intergenic

De novo

-

Yuen2017 G

SHISA9

SP0129496

chr16:
12995972-12995972

C

A

exonic

De novo

stopgain

NM_001145204
NM_001145205

c.C51A
c.C51A

p.C17X
p.C17X

39.0

-

Fu2022 E
Zhou2022 GE

SHISA9

2-1212-003

chr16:
13914975-13914975

T

C

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1261-004

chr16:
13774466-13774466

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0162-004

chr16:
13032314-13032314

G

C

intronic

De novo

-

Yuen2017 G

SHISA9

2-0225-004

chr16:
13433071-13433071

T

A

intergenic

De novo

-

Yuen2017 G

SHISA9

AU2248301

chr16:
13116149-13116149

C

A

intronic

De novo

-

Yuen2017 G

SHISA9

2-1456-004

chr16:
13079076-13079076

C

T

intronic

De novo

-

Yuen2017 G

SHISA9

1-0214-003

chr16:
13143741-13143741

G

A

intronic

De novo

-

Yuen2017 G

SHISA9

A11

chr16:
13679664-13679664

G

T

intergenic

De novo

-

Wu2018 G

SHISA9

AU3692302

chr16:
13992466-13992466

A

G

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0010-003

chr16:
13833066-13833074

TCATAGCGA

T

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1451-004

chr16:
13925690-13925690

T

C

intergenic

De novo

-

Yuen2017 G

SHISA9

AU3720302

chr16:
13888660-13888660

C

G

intergenic

De novo

-

Yuen2017 G

SHISA9

AU3720302

chr16:
13888879-13888879

G

C

intergenic

De novo

-

Yuen2017 G

SHISA9

2-1522-003

chr16:
13211464-13211464

C

T

intronic

De novo

-

Yuen2017 G

SHISA9

1-0244-003

chr16:
13739889-13739889

A

T

intergenic

De novo

-

Yuen2017 G

SHISA9

AU4060306

chr16:
13698830-13698830

C

T

intergenic

De novo

-

Yuen2017 G

SHISA9

1-0381-003

chr16:
13514407-13514407

G

A

intergenic

De novo

-

Yuen2017 G

SHISA9

A8

chr16:
13057026-13057026

A

G

intronic

De novo

-

Wu2018 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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