Variant Results

or

or

Results for "CLSTN1"

Variant Events: 24

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

CLSTN1

MSSNG00164-003

chr1:
9815642-9815642

A

G

intronic

De novo

-

-

Trost2022 G

CLSTN1

AU061104

chr1:
9897459-9897459

C

T

intergenic

De novo

-

-

Yuen2017 G

CLSTN1

E3F6Y_01

chr1:
9812750-9812750

T

C

intronic

De novo

-

-

Trost2022 G

CLSTN1

REACH000709

chr1:
9856658-9856658

C

T

intronic

De novo

-

-

Trost2022 G

CLSTN1

2-1281-003

chr1:
9846760-9846760

C

G

intronic

De novo

-

-

Trost2022 G

CLSTN1

5-5072-003

chr1:
9798714-9798718

TTTTG

T

intronic

De novo

-

-

Trost2022 G

CLSTN1

SSC00484

chr1:
9795926-9795926

C

A

intronic

De novo

-

-

Trost2022 G

CLSTN1

11185.p1

chr1:
9795926-9795926

C

A

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

CLSTN1

1-1148-003

chr1:
9799298-9799298

T

C

intronic

De novo

-

-

Trost2022 G

CLSTN1

AU2320301

chr1:
9799006-9799006

G

A

intronic

De novo

-

-

Trost2022 G

CLSTN1

5-5130-003

chr1:
9881735-9881735

T

G

intronic

De novo

-

-

Trost2022 G

CLSTN1

4-0077-003

chr1:
9856659-9856659

G

T

intronic

De novo

-

-

Trost2022 G

CLSTN1

AU4029302

chr1:
9841549-9841549

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CLSTN1

SP0253708

chr1:
9795963-9795963

C

G

exonic

nonsynonymous SNV

NM_001302883
NM_014944
NM_001009566

c.G1657C
c.G1684C
c.G1714C

p.D553H
p.D562H
p.D572H

16.7

-

Zhou2022 GE

CLSTN1

2-1300-003

chr1:
9865883-9865883

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CLSTN1

SP0088961

chr1:
9801268-9801268

G

A

exonic

De novo

nonsynonymous SNV

NM_014944
NM_001009566
NM_001302883

c.C1373T
c.C1403T
c.C1403T

p.P458L
p.P468L
p.P468L

19.39

Fu2022 E
Trost2022 G
Zhou2022 GE

CLSTN1

1-0239-003

chr1:
9789322-9789322

T

G

UTR3

De novo

-

-

Trost2022 G
Trost2022 G

CLSTN1

1-0193-003

chr1:
9830559-9830559

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CLSTN1

1-0239-003

chr1:
9789817-9789817

G

A

UTR3

De novo

-

-

Trost2022 G
Trost2022 G

CLSTN1

1-0239-003

chr1:
9789573-9789573

G

C

UTR3

De novo

-

-

Trost2022 G
Trost2022 G

CLSTN1

AU4176302

chr1:
9845394-9845394

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CLSTN1

SP0192287

chr1:
9801265-9801265

C

T

exonic

nonsynonymous SNV

NM_014944
NM_001009566
NM_001302883

c.G1376A
c.G1406A
c.G1406A

p.S459N
p.S469N
p.S469N

8.551

-

Zhou2022 GE

CLSTN1

1-0169-004

chr1:
9822448-9822454

GGCAGAA

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CLSTN1

1-0971-003

chr1:
9903932-9903932

G

T

intergenic

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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