Variant Results

or

Results for "GSN"

Variant Events: 22

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

GSN

SP0109153

chr9:
124094705-124094705

T

C

intronic

De novo

-

Fu2022 E
Zhou2022 GE

GSN

SSC07229

chr9:
124091158-124091158

T

C

intronic

De novo

-

Trost2022 G

GSN

SP0008182

chr9:
124094753-124094753

C

T

exonic

De novo

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.C2221T
c.C2068T
c.C2119T
c.C2092T
c.C2068T
c.C2176T
c.C2068T
c.C2068T
c.C2101T
c.C2101T

p.R741W
p.R690W
p.R707W
p.R698W
p.R690W
p.R726W
p.R690W
p.R690W
p.R701W
p.R701W

21.3

4.124E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

GSN

1-0753-003

chr9:
124066273-124066273

C

T

intronic

De novo

-

Trost2022 G

GSN

REACH000409

chr9:
124082522-124082522

C

T

intronic

De novo

-

Trost2022 G

GSN

AU2579302

chr9:
124041220-124041220

G

T

intronic

De novo

-

Trost2022 G

GSN

3-0465-000

chr9:
124042207-124042207

C

G

intronic

De novo

-

Trost2022 G

GSN

12906.p1

chr9:
124091158-124091158

T

C

intronic

De novo

-

Satterstrom2020 E

GSN

B5X9C-01

chr9:
124035107-124035107

G

A

intronic

De novo

-

Trost2022 G

GSN

AU054303

chr9:
124088249-124088249

C

G

intronic

De novo

-

Yuen2017 G

GSN

PN400281

chr9:
124074704-124074704

C

T

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.C754T
c.C601T
c.C652T
c.C625T
c.C601T
c.C709T
c.C601T
c.C601T
c.C634T
c.C634T

p.R252W
p.R201W
p.R218W
p.R209W
p.R201W
p.R237W
p.R201W
p.R201W
p.R212W
p.R212W

24.1

-

Leblond2019 E

GSN

Codina-Sola2015:ASD_27

chr9:
124079385-124079385

A

G

exonic

Paternal

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.A928G
c.A775G
c.A826G
c.A799G
c.A775G
c.A883G
c.A775G
c.A775G
c.A808G
c.A808G

p.M310V
p.M259V
p.M276V
p.M267V
p.M259V
p.M295V
p.M259V
p.M259V
p.M270V
p.M270V

14.04

-

Codina-Sola2015 E

GSN

PN400267

chr9:
124072992-124072992

G

A

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.G535A
c.G382A
c.G433A
c.G406A
c.G382A
c.G490A
c.G382A
c.G382A
c.G415A
c.G415A

p.V179M
p.V128M
p.V145M
p.V136M
p.V128M
p.V164M
p.V128M
p.V128M
p.V139M
p.V139M

33.0

0.005

Leblond2019 E

GSN

PN400491

chr9:
124072992-124072992

G

A

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.G535A
c.G382A
c.G433A
c.G406A
c.G382A
c.G490A
c.G382A
c.G382A
c.G415A
c.G415A

p.V179M
p.V128M
p.V145M
p.V136M
p.V128M
p.V164M
p.V128M
p.V128M
p.V139M
p.V139M

33.0

0.005

Leblond2019 E

GSN

PN400232

chr9:
124072992-124072992

G

A

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.G535A
c.G382A
c.G433A
c.G406A
c.G382A
c.G490A
c.G382A
c.G382A
c.G415A
c.G415A

p.V179M
p.V128M
p.V145M
p.V136M
p.V128M
p.V164M
p.V128M
p.V128M
p.V139M
p.V139M

33.0

0.005

Leblond2019 E

GSN

1-0201-005

chr9:
124048049-124048049

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GSN

PN400231

chr9:
124072992-124072992

G

A

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.G535A
c.G382A
c.G433A
c.G406A
c.G382A
c.G490A
c.G382A
c.G382A
c.G415A
c.G415A

p.V179M
p.V128M
p.V145M
p.V136M
p.V128M
p.V164M
p.V128M
p.V128M
p.V139M
p.V139M

33.0

0.005

Leblond2019 E

GSN

iHART1768

chr9:
124073124-124073124

G

A

splicing

Paternal

splicing

21.0

6.679E-5

Ruzzo2019 G

GSN

iHART2239

chr9:
124062146-124062174

CCGCACCGCCCCGCGCCCGCGCTGCTTTG

C

exonic

Maternal

frameshift deletion

NM_000177

c.8_35del

p.P3fs

-

Ruzzo2019 G

GSN

mAGRE1768

chr9:
124073124-124073124

G

A

splicing

Paternal

splicing

21.0

6.679E-5

Cirnigliaro2023 G

GSN

PN400363

chr9:
124072992-124072992

G

A

exonic

Unknown

nonsynonymous SNV

NM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667

c.G535A
c.G382A
c.G433A
c.G406A
c.G382A
c.G490A
c.G382A
c.G382A
c.G415A
c.G415A

p.V179M
p.V128M
p.V145M
p.V136M
p.V128M
p.V164M
p.V128M
p.V128M
p.V139M
p.V139M

33.0

0.005

Leblond2019 E

GSN

mAGRE2239

chr9:
124062146-124062174

CCGCACCGCCCCGCGCCCGCGCTGCTTTG

C

exonic

Maternal

frameshift deletion

NM_000177

c.8_35del

p.P3fs

-

Cirnigliaro2023 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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