Variant Results

or

Results for "CASK"

Variant Events: 33

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

CASK

1-0629-003

chrX:
41969906-41969937

TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAC

TC

intergenic

De novo

-

Yuen2017 G

CASK

2-1195-003

chrX:
42328026-42328029

CTGA

CTGAGTGA

intergenic

De novo

-

Yuen2017 G

CASK

2-0033-003

chrX:
42292968-42292968

A

C

intergenic

De novo

-

Yuen2017 G

CASK

AU3911302

chrX:
41838691-41838691

G

A

intergenic

De novo

-

Yuen2017 G

CASK

AU3371305

chrX:
41641782-41641782

A

G

intronic

De novo

-

Yuen2017 G

CASK

1-0481-003

chrX:
42565888-42565888

A

G

intergenic

De novo

-

Yuen2017 G

CASK

AU3713302

chrX:
42360351-42360352

AG

A

intergenic

De novo

-

Yuen2017 G

CASK

AU3586303

chrX:
41695469-41695478

CAAAAAAAAA

CAAAAAAAAAA

intronic

De novo

-

Yuen2017 G

CASK

M18437

chrX:
41524649-41524649

C

T

exonic

Maternal

nonsynonymous SNV

NM_001126054
NM_001126055
NM_003688

c.G589A
c.G589A
c.G589A

p.G197R
p.G197R
p.G197R

32.0

-

Guo2018 T
Wang2016 T

CASK

SP0082038

chrX:
41524649-41524649

C

T

exonic

nonsynonymous SNV

NM_001126054
NM_001126055
NM_003688

c.G589A
c.G589A
c.G589A

p.G197R
p.G197R
p.G197R

32.0

-

Zhou2022 GE

CASK

2-1117-003

chrX:
41849526-41849526

T

C

intergenic

De novo

-

Yuen2017 G

CASK

1-0150-004

chrX:
41496532-41496532

C

T

intronic

De novo

-

Yuen2017 G

CASK

7-0168-003

chrX:
42448526-42448526

C

T

intergenic

De novo

-

Yuen2017 G

CASK

452-09-112086

chrX:
41419074-41419087

GAAGGTAATACTCC

G

exonic

De novo

frameshift deletion

NM_001126055
NM_001126054
NM_003688

c.1664_1676del
c.1682_1694del
c.1682_1694del

p.G555fs
p.G561fs
p.G561fs

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CASK

AU4060306

chrX:
42216956-42216975

AAAAAAAAAAAAAAAAAAGA

AA

intergenic

De novo

-

Yuen2017 G

CASK

5-0033-004

chrX:
42271598-42271598

A

G

intergenic

De novo

-

Yuen2017 G

CASK

AU3768302

chrX:
41904518-41904518

G

C

intergenic

De novo

-

Yuen2017 G

CASK

2-1417-003

chrX:
42585252-42585252

C

T

intergenic

De novo

-

Yuen2017 G

CASK

A27

chrX:
42445851-42445851

C

A

intergenic

De novo

-

Wu2018 G

CASK

12648.p1

chrX:
41598642-41598642

C

T

exonic

Unknown

nonsynonymous SNV

NM_001126054
NM_001126055
NM_003688

c.G424A
c.G424A
c.G424A

p.V142M
p.V142M
p.V142M

26.1

-

Gupta2014 T

CASK

11379.p1

chrX:
41524649-41524649

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001126054
NM_001126055
NM_003688

c.G589A
c.G589A
c.G589A

p.G197R
p.G197R
p.G197R

32.0

-

Gupta2014 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CASK

11291.p1

chrX:
41469222-41469222

T

C

exonic

Unknown

nonsynonymous SNV

NM_001126055
NM_001126054
NM_003688

c.A1072G
c.A1090G
c.A1090G

p.S358G
p.S364G
p.S364G

16.11

3.519E-5

Gupta2014 T

CASK

AU4029302

chrX:
41441600-41441600

G

A

intronic

De novo

-

Yuen2017 G

CASK

AU3912302

chrX:
42436710-42436710

T

G

intergenic

De novo

-

Yuen2017 G

CASK

P035

chrX:
41413089-41413089

C

T

exonic

Maternal

nonsynonymous SNV

NM_001126055
NM_001126054
NM_003688

c.G1835A
c.G1853A
c.G1922A

p.R612K
p.R618K
p.R641K

9.607

2.0E-4

Long2019 ET

CASK

SP0147327

chrX:
41712461-41712461

G

A

exonic

stopgain

NM_001126054
NM_001126055
NM_003688

c.C79T
c.C79T
c.C79T

p.R27X
p.R27X
p.R27X

36.0

-

Zhou2022 GE

CASK

AU024606

chrX:
41746125-41746125

C

T

intronic

De novo

-

Yuen2017 G

CASK

7-0133-003

chrX:
42492698-42492698

G

A

intergenic

De novo

-

Yuen2017 G

CASK

1-0075-003

chrX:
42481539-42481559

TTGTGTGTGTGTGTGTGTGTG

TTGTGTGTGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

CASK

AU056803

chrX:
42574177-42574189

TTTTTTTTTTTTT

TTTTTTTTTTTTTGTTTTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

CASK

AU006804

chrX:
41495140-41495140

T

C

intronic

De novo

-

Yuen2017 G

CASK

AU4007301

chrX:
41429241-41429260

ATTTTCTTTTCTTTTCTTTT

ATTTTCTTTT

intronic

De novo

-

Yuen2017 G

CASK

AU2248302

chrX:
42349471-42349471

G

A

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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