Variant Results

or

Results for "SZT2"

Variant Events: 35

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

SZT2

MSSNG00329-003

chr1:
43885443-43885443

T

C

exonic

De novo

synonymous SNV

NM_015284

c.T918C

p.H306H

-

1.789E-5

Trost2022 G
Zhou2022 GE

SZT2

1-0219-003

chr1:
43905973-43905973

C

CAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

SZT2

2-0088-003

chr1:
43912806-43912806

G

A

exonic

De novo

nonsynonymous SNV

NM_015284

c.G9082A

p.G3028R

14.45

1.763E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

SZT2

SP0026996

chr1:
43891087-43891087

T

G

intronic

De novo

-

Fu2022 E

SZT2

iHART3119

chr1:
43912786-43912787

TC

T

exonic

Paternal

frameshift deletion

NM_015284

c.9063delC

p.F3021fs

-

Ruzzo2019 G

SZT2

7-0140-003

chr1:
43991107-43991107

G

A

intergenic

De novo

-

Yuen2017 G

SZT2

2-1085-003

chr1:
43976119-43976119

A

G

intergenic

De novo

-

Yuen2017 G

SZT2

SP0052017

chr1:
43886554-43886554

G

A

exonic

De novo

nonsynonymous SNV

NM_015284

c.G1396A

p.G466S

-

6.205E-5

Trost2022 G

SZT2

1-0285-004

chr1:
43990318-43990318

G

A

intergenic

De novo

-

Yuen2017 G

SZT2

SP0112072

chr1:
43906081-43906081

T

G

intronic

De novo

-

Fu2022 E
Trost2022 G

SZT2

2-1258-003

chr1:
43880747-43880747

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SZT2

SP0039239

chr1:
43891327-43891327

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

SZT2

1-0180-004

chr1:
43910044-43910044

A

G

intronic

De novo

-

Trost2022 G

SZT2

SSC10810

chr1:
43907657-43907657

C

T

intronic

De novo

-

1.714E-5

Trost2022 G

SZT2

SP0161765

chr1:
43903321-43903321

T

A

exonic

De novo

nonsynonymous SNV

NM_015284

c.T6175A

p.S2059T

17.54

-

Trost2022 G

SZT2

MSSNG00127-004

chr1:
43896402-43896402

C

T

exonic

De novo

synonymous SNV

NM_015284

c.C4545T

p.S1515S

-

4.137E-5

Trost2022 G

SZT2

SP0198615

chr1:
43904374-43904374

T

G

exonic

De novo

synonymous SNV

NM_015284

c.T6342G

p.P2114P

-

Trost2022 G

SZT2

SP0187781

chr1:
43904374-43904374

T

G

exonic

De novo

synonymous SNV

NM_015284

c.T6342G

p.P2114P

-

Trost2022 G

SZT2

mAGRE4511

chr1:
43908116-43908116

C

T

exonic

Maternal

stopgain

NM_015284

c.C7807T

p.Q2603X

47.0

-

Cirnigliaro2023 G

SZT2

mAGRE4260

chr1:
43893269-43893269

C

T

exonic

Maternal

stopgain

NM_015284

c.C3496T

p.Q1166X

41.0

-

Cirnigliaro2023 G

SZT2

SP0049279

chr1:
43913823-43913823

C

T

exonic

De novo

nonsynonymous SNV

NM_015284

c.C9466T

p.R3156W

15.21

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SZT2

mAGRE3119

chr1:
43912786-43912787

TC

T

exonic

Paternal

frameshift deletion

NM_015284

c.9063delC

p.F3021fs

-

Cirnigliaro2023 G

SZT2

ASC_3B569

chr1:
43892465-43892465

C

T

exonic

De novo

synonymous SNV

NM_015284

c.C3123T

p.S1041S

-

9.071E-6

Fu2022 E

SZT2

mAGRE2017

chr1:
43912779-43912779

C

T

exonic

Maternal

stopgain

NM_015284

c.C9055T

p.R3019X

49.0

8.497E-6

Cirnigliaro2023 G

SZT2

EX12A

chr1:
43897390-43897390

C

T

exonic

De novo

nonsynonymous SNV

NM_015284

c.C4921T

p.R1641C

15.11

8.244E-6

Fu2022 E

SZT2

mAGRE2016

chr1:
43912779-43912779

C

T

exonic

Maternal

stopgain

NM_015284

c.C9055T

p.R3019X

49.0

8.497E-6

Cirnigliaro2023 G

SZT2

14033.p1

chr1:
43893787-43893787

G

A

exonic

De novo

nonsynonymous SNV

NM_015284

c.G3746A

p.R1249H

18.47

1.649E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SZT2

14215.p1

chr1:
43907657-43907657

C

T

intronic

De novo

-

1.714E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SZT2

SSC09647

chr1:
43893787-43893787

G

A

exonic

De novo

nonsynonymous SNV

NM_015284

c.G3746A

p.R1249H

18.47

1.649E-5

Fu2022 E
Lim2017 E
Trost2022 G

SZT2

2-0022-003

chr1:
43941434-43941434

C

A

intergenic

De novo

-

Yuen2017 G

SZT2

SP0095651

chr1:
43915712-43915712

C

T

intronic

De novo

-

Fu2022 E

SZT2

Chen2021:52

chr1:
43909320-43909321

GT

G

exonic

Paternal

frameshift deletion

NM_015284

c.8508delT

p.C2836fs

-

Chen2021 GET

SZT2

Chen2021:52

chr1:
43903556-43903556

A

G

exonic

Maternal

nonsynonymous SNV

NM_015284

c.A6320G

p.H2107R

17.68

8.241E-6

Chen2021 GET

SZT2

AU2000304

chr1:
43905792-43905792

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SZT2

7-0167-003

chr1:
43939369-43939369

G

C

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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