Variant Results

or

Results for "CASZ1"

Variant Events: 52

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

CASZ1

M19553

chr1:
10713944-10713944

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G2170A
c.G2170A

p.D724N
p.D724N

29.9

-

Wang2020 T
Wang2020 T

CASZ1

219-2286-0001

chr1:
10703326-10703326

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G3911A

p.R1304Q

36.0

8.396E-6

Wang2020 T
Wang2020 T

CASZ1

Ishay2021:9

chr1:
10714021-10714021

C

T

exonic

Inherited

nonsynonymous SNV

NM_001079843
NM_017766

c.G2093A
c.G2093A

p.R698H
p.R698H

35.0

3.317E-5

Ishay2021 E

CASZ1

268844

chr1:
10725572-10725572

G

A

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.C73T
c.C73T

p.R25C
p.R25C

20.9

3.0E-4

Wang2020 T
Wang2020 T

CASZ1

GX0235.p1

chr1:
10715750-10715750

C

T

exonic

Maternal

nonsynonymous SNV

NM_001079843
NM_017766

c.G1621A
c.G1621A

p.G541S
p.G541S

36.0

-

Wang2020 T
Wang2020 T

CASZ1

M23697

chr1:
10705096-10705096

C

A

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G3746T

p.C1249F

26.8

-

Wang2020 T
Wang2020 T

CASZ1

M23736

chr1:
10702937-10702937

C

A

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G4141T

p.G1381C

24.0

-

Wang2020 T
Wang2020 T

CASZ1

D2N5C

chr1:
10715750-10715750

C

T

exonic

Maternal, Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G1621A
c.G1621A

p.G541S
p.G541S

36.0

-

Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T

CASZ1

212-21001-1

chr1:
10716788-10716788

G

A

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.C1415T
c.C1415T

p.S472L
p.S472L

27.8

-

Wang2020 T
Wang2020 T

CASZ1

421686

chr1:
10716770-10716770

C

A

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G1433T
c.G1433T

p.G478V
p.G478V

27.9

-

Wang2020 T
Wang2020 T

CASZ1

7-0035-003

chr1:
10824836-10824836

G

A

intronic

De novo

-

Yuen2017 G

CASZ1

07C66975

chr1:
10700023-10700023

G

A

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.C4256T

p.A1419V

35.0

5.096E-5

Wang2020 T
Wang2020 T

CASZ1

109531-100

chr1:
10705030-10705030

C

G

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G3812C

p.R1271P

29.2

-

Wang2020 T
Wang2020 T

CASZ1

Viggiano2022:22.4

chr1:
10713547-10713547

G

A

exonic

Paternal

nonsynonymous SNV

NM_001079843
NM_017766

c.C2567T
c.C2567T

p.P856L
p.P856L

10.73

1.0E-4

Viggiano2022 GT

CASZ1

299375

chr1:
10703027-10703027

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G4051A

p.D1351N

35.0

5.119E-5

Wang2020 T
Wang2020 T

CASZ1

05C51810

chr1:
10700014-10700014

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G4265A

p.R1422Q

34.0

1.699E-5

Wang2020 T
Wang2020 T
Wang2020 T

CASZ1

2-0304-004

chr1:
10773767-10773767

C

T

intronic

De novo

-

Yuen2017 G

CASZ1

AU2029303

chr1:
10699875-10699877

GAA

GAAA

exonic

De novo

frameshift insertion

NM_001079843

c.4402dupT

p.F1468fs

-

Wang2020 T
Yuen2017 G

CASZ1

214-17039-1

chr1:
10699725-10699727

CAG

TAGGT

exonic

Unknown

frameshift substitution

NM_001079843

c.4552_4554ACCTA

N/A

-

Wang2020 T
Wang2020 T

CASZ1

Viggiano2022:22.3

chr1:
10713547-10713547

G

A

exonic

Paternal

nonsynonymous SNV

NM_001079843
NM_017766

c.C2567T
c.C2567T

p.P856L
p.P856L

10.73

1.0E-4

Viggiano2022 GT

CASZ1

M8U5K

chr1:
10725539-10725539

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G106A
c.G106A

p.A36T
p.A36T

35.0

1.854E-5

Wang2020 T
Wang2020 T

CASZ1

03C16528

chr1:
10713896-10713896

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G2218A
c.G2218A

p.A740T
p.A740T

35.0

3.4E-5

Wang2020 T
Wang2020 T

CASZ1

09C84306

chr1:
10700014-10700014

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.G4265A

p.R1422Q

34.0

1.699E-5

Wang2020 T
Wang2020 T

CASZ1

80964

chr1:
10720575-10720575

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G524A
c.G524A

p.R175Q
p.R175Q

26.8

9.279E-5

Wang2020 T
Wang2020 T

CASZ1

M15013

chr1:
10714268-10714268

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079843
NM_017766

c.G1846A
c.G1846A

p.G616S
p.G616S

33.0

2.482E-5

Wang2020 T
Wang2020 T

CASZ1

2-1268-003

chr1:
10756275-10756275

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CASZ1

2-1195-003

chr1:
10807124-10807124

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CASZ1

7-0001-003

chr1:
10807161-10807165

TCCCC

TCC

intronic

De novo

-

Yuen2017 G

CASZ1

AU2029302

chr1:
10699875-10699877

GAA

GAAA

exonic

De novo

frameshift insertion

NM_001079843

c.4402dupT

p.F1468fs

-

Wang2020 T
Yuen2017 G

CASZ1

7-0250-003

chr1:
10853773-10853773

T

C

intronic

De novo

-

Yuen2017 G

CASZ1

AU3900301

chr1:
10853602-10853602

A

T

intronic

De novo

-

Yuen2017 G

CASZ1

AU4191302

chr1:
10740278-10740278

C

A

intronic

De novo

-

Yuen2017 G

CASZ1

7-0255-003

chr1:
10760049-10760064

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

CASZ1

AU038203

chr1:
10757854-10757854

G

A

intronic

De novo

-

Yuen2017 G

CASZ1

AU066818

chr1:
10817214-10817214

A

G

intronic

De novo

-

Yuen2017 G

CASZ1

2-1508-003

chr1:
10947996-10947996

T

G

intergenic

De novo

-

Yuen2017 G

CASZ1

12568.p1

chr1:
10899923-10899923

G

C

intergenic

De novo

-

Turner2016 G

CASZ1

1-0991-003

chr1:
10881994-10881994

C

T

intergenic

De novo

-

Yuen2017 G

CASZ1

14465.p1

chr1:
10798964-10798964

C

T

intronic

De novo

-

Wilfert2021 G

CASZ1

11604.p1

chr1:
10711096-10711097

CG

C

exonic

De novo

frameshift deletion

NM_001079843
NM_017766

c.2717delC
c.2717delC

p.P906fs
p.P906fs

-

Wilfert2021 G

CASZ1

1-0041-003

chr1:
10737318-10737318

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CASZ1

SF0100556.p1

chr1:
10725142-10725142

G

C

exonic

De novo

stopgain

NM_001079843
NM_017766

c.C503G
c.C503G

p.S168X
p.S168X

36.0

-

Wang2020 T

CASZ1

SF0144917.p1

chr1:
10714537-10714537

C

T

exonic

De novo

nonsynonymous SNV

NM_001079843
NM_017766

c.G1777A
c.G1777A

p.E593K
p.E593K

36.0

-

Wang2020 T

CASZ1

SF0020416.p1

chr1:
10702943-10702943

G

A

exonic

De novo

nonsynonymous SNV

NM_001079843

c.C4135T

p.P1379S

27.5

-

Wang2020 T

CASZ1

SF0086394.p1

chr1:
10699397-10699398

AG

A

exonic

De novo

frameshift deletion

NM_001079843

c.4881delC

p.G1627fs

-

Wang2020 T

CASZ1

AU070703

chr1:
10922632-10922632

T

A

intergenic

De novo

-

Yuen2017 G

CASZ1

HEN0165.p1

chr1:
10707999-10707999

C

G

exonic

Maternal

nonsynonymous SNV

NM_001079843
NM_017766

c.G3356C
c.G3356C

p.W1119S
p.W1119S

29.4

-

Wang2020 T
Wang2020 T

CASZ1

F8293-1

chr1:
10720587-10720587

G

C

exonic

De novo

nonsynonymous SNV

NM_001079843
NM_017766

c.C512G
c.C512G

p.A171G
p.A171G

15.99

-

Satterstrom2020 E

CASZ1

GX0279.p1

chr1:
10720351-10720351

C

T

exonic

Maternal

nonsynonymous SNV

NM_001079843
NM_017766

c.G748A
c.G748A

p.E250K
p.E250K

33.0

2.491E-5

Wang2020 T
Wang2020 T

CASZ1

GX0526.p1

chr1:
10708003-10708003

C

T

exonic

Maternal

nonsynonymous SNV

NM_001079843
NM_017766

c.G3352A
c.G3352A

p.A1118T
p.A1118T

36.0

8.438E-6

Wang2020 T
Wang2020 T

CASZ1

Y4K7C

chr1:
10699679-10699679

G

T

exonic

Unknown

nonsynonymous SNV

NM_001079843

c.C4600A

p.R1534S

33.0

-

Wang2020 T
Wang2020 T

CASZ1

AU2139305

chr1:
10829994-10829994

G

C

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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