Variant Results

or

Results for "CLASP1"

Variant Events: 34

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

CLASP1

AU4072303

chr2:
122200920-122200920

T

C

intronic

De novo

-

Yuen2017 G

CLASP1

2-0088-003

chr2:
122238514-122238514

G

A

intronic

De novo

-

Yuen2017 G

CLASP1

1-0590-003

chr2:
122260437-122260437

G

C

intronic

De novo

-

Yuen2017 G

CLASP1

2-1169-004

chr2:
122281015-122281015

G

A

intronic

De novo

-

Yuen2017 G

CLASP1

AU3787303

chr2:
122211734-122211734

C

T

intronic

De novo

-

Yuen2017 G

CLASP1

AU4069301

chr2:
122275261-122275261

T

A

intronic

De novo

-

Yuen2017 G

CLASP1

AU4069301

chr2:
122275624-122275624

G

C

intronic

De novo

-

Yuen2017 G

CLASP1

12680.p1

chr2:
122281801-122281801

C

T

intronic

De novo

-

Turner2016 G

CLASP1

1-0401-003

chr2:
122351851-122351851

G

C

intronic

De novo

-

Yuen2017 G

CLASP1

1-0669-003

chr2:
122189991-122189991

G

A

intronic

De novo

-

Yuen2017 G

CLASP1

AU3875301

chr2:
122232090-122232090

A

G

intronic

De novo

-

Yuen2017 G

CLASP1

08C72321

chr2:
122285463-122285463

C

T

exonic

De novo

nonsynonymous SNV

NM_001142273
NM_001142274
NM_001207051
NM_015282

c.G382A
c.G382A
c.G382A
c.G382A

p.V128I
p.V128I
p.V128I
p.V128I

11.38

8.306E-6

Fu2022 E
Satterstrom2020 E

CLASP1

AU3891304

chr2:
122292218-122292218

A

G

intronic

De novo

-

Yuen2017 G

CLASP1

1-0526-003

chr2:
122372421-122372421

G

A

intronic

De novo

-

Yuen2017 G

CLASP1

AU030104

chr2:
122369381-122369390

TGAGGAGGAG

TGAGGAG

intronic

De novo

-

Yuen2017 G

CLASP1

5-0042-003

chr2:
122139460-122139460

G

A

intronic

De novo

-

Yuen2017 G

CLASP1

1-0465-003

chr2:
122338042-122338042

C

G

intronic

De novo

-

Yuen2017 G

CLASP1

AU3721302

chr2:
122256274-122256274

C

A

intronic

De novo

-

Yuen2017 G

CLASP1

AU3764302

chr2:
122406537-122406537

T

C

intronic

De novo

-

Yuen2017 G

CLASP1

AU4067303

chr2:
122252518-122252518

A

C

intronic

De novo

-

Yuen2017 G

CLASP1

AU3764302

chr2:
122406556-122406556

C

T

intronic

De novo

-

Yuen2017 G

CLASP1

14239_p1

chr2:
122125310-122125310

A

C

exonic

De novo

nonsynonymous SNV

NM_001142274
NM_001207051
NM_001142273
NM_015282

c.T3539G
c.T3557G
c.T3563G
c.T3740G

p.L1180R
p.L1186R
p.L1188R
p.L1247R

11.15

-

Fu2022 E

CLASP1

14239.p1

chr2:
122125310-122125310

A

C

exonic

De novo

nonsynonymous SNV

NM_001142274
NM_001207051
NM_001142273
NM_015282

c.T3539G
c.T3557G
c.T3563G
c.T3740G

p.L1180R
p.L1186R
p.L1188R
p.L1247R

11.15

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

CLASP1

11673.p1

chr2:
122154835-122154835

T

C

exonic

De novo

nonsynonymous SNV

NM_001142274
NM_001207051
NM_015282
NM_001142273

c.A2920G
c.A2938G
c.A3004G
c.A2944G

p.I974V
p.I980V
p.I1002V
p.I982V

18.72

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

CLASP1

1-0347-003

chr2:
122216454-122216454

C

T

exonic

De novo

nonsynonymous SNV

NM_001142273
NM_001142274
NM_001207051
NM_015282

c.G1276A
c.G1276A
c.G1276A
c.G1276A

p.A426T
p.A426T
p.A426T
p.A426T

27.7

-

Yuen2017 G

CLASP1

152997

chr2:
122176188-122176188

G

A

intronic

De novo

-

Satterstrom2020 E

CLASP1

939_2013

chr2:
122288448-122288448

T

C

intronic

De novo

-

2.0E-4

Satterstrom2020 E

CLASP1

1-0514-003

chr2:
122207488-122207488

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CLASP1

UK10K_SKUSE5080232

chr2:
122122758-122122758

T

G

exonic

De novo

nonsynonymous SNV

NM_001142274
NM_001207051
NM_001142273
NM_015282

c.A3788C
c.A3806C
c.A3812C
c.A3989C

p.K1263T
p.K1269T
p.K1271T
p.K1330T

23.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CLASP1

SSC03203

chr2:
122154835-122154835

T

C

exonic

De novo

nonsynonymous SNV

NM_001142274
NM_001207051
NM_015282
NM_001142273

c.A2920G
c.A2938G
c.A3004G
c.A2944G

p.I974V
p.I980V
p.I1002V
p.I982V

18.72

-

Fu2022 E
Lim2017 E

CLASP1

1-0465-003a

chr2:
122338042-122338042

C

G

intronic

De novo

-

Yuen2017 G

CLASP1

1-0464-003

chr2:
122369176-122369176

A

C

intronic

De novo

-

Yuen2017 G

CLASP1

13159.p1

chr2:
122161907-122161907

T

C

intronic

De novo

-

Satterstrom2020 E

CLASP1

AU2433303

chr2:
122364823-122364823

G

A

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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