Variant Results

or

Results for "GSE1"

Variant Events: 23

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

GSE1

AU3721301

chr16:
85701911-85701911

G

A

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.G2984A
c.G3077A
c.G3296A

p.R995Q
p.R1026Q
p.R1099Q

0.899

8.299E-6

Yuen2017 G
Zhou2022 GE

GSE1

2-1268-003

chr16:
85675315-85675315

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GSE1

SP0044301

chr16:
85691077-85691077

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.C1195T
c.C1288T
c.C1507T

p.R399W
p.R430W
p.R503W

20.4

4.222E-5

Feliciano2019 E

GSE1

SP0077663

chr16:
85695043-85695043

C

T

exonic

De novo

synonymous SNV

NM_001134473
NM_001278184
NM_014615

c.C1620T
c.C1713T
c.C1932T

p.A540A
p.A571A
p.A644A

0.38

8.801E-6

Fu2022 E
Zhou2022 GE

GSE1

11711.p1

chr16:
85690061-85690061

G

A

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.G790A
c.G883A
c.G1102A

p.E264K
p.E295K
p.E368K

19.58

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Zhou2022 GE

GSE1

SP0107296

chr16:
85689946-85689946

C

T

intronic

De novo

-

2.0E-4

Fu2022 E
Zhou2022 GE

GSE1

11524.p1

chr16:
85691078-85691078

G

A

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.G1196A
c.G1289A
c.G1508A

p.R399Q
p.R430Q
p.R503Q

20.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GSE1

SP0111986

chr16:
85687871-85687871

T

G

intronic

De novo

-

Fu2022 E

GSE1

11188.p1

chr16:
85697156-85697156

C

T

exonic

Mosaic, De novo

synonymous SNV

NM_001134473
NM_001278184
NM_014615

c.C2268T
c.C2361T
c.C2580T

p.F756F
p.F787F
p.F860F

10.64

4.954E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GSE1

AU082A

chr16:
85689972-85689972

G

GGCGGGAGAGGGAGCGCGA

exonic

De novo

nonframeshift insertion

NM_001134473
NM_001278184
NM_014615

c.701_702insGCGGGAGAGGGAGCGCGA
c.794_795insGCGGGAGAGGGAGCGCGA
c.1013_1014insGCGGGAGAGGGAGCGCGA

p.R234delinsRRERERE
p.R265delinsRRERERE
p.R338delinsRRERERE

-

3.671E-5

Fu2022 E

GSE1

11188_p1

chr16:
85697156-85697156

C

T

exonic

De novo

synonymous SNV

NM_001134473
NM_001278184
NM_014615

c.C2268T
c.C2361T
c.C2580T

p.F756F
p.F787F
p.F860F

10.64

4.954E-5

Fu2022 E

GSE1

2-1167-003

chr16:
85706336-85706336

G

A

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

GSE1

1-0593-003

chr16:
85646460-85646460

C

G

intronic

De novo

-

Yuen2017 G

GSE1

5430

chr16:
85690061-85690061

G

A

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.G790A
c.G883A
c.G1102A

p.E264K
p.E295K
p.E368K

19.58

-

Trost2022 G

GSE1

AU3858303

chr16:
85668648-85668648

G

A

intronic

De novo

-

Yuen2017 G

GSE1

SSC00558

chr16:
85691078-85691078

G

A

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.G1196A
c.G1289A
c.G1508A

p.R399Q
p.R430Q
p.R503Q

20.2

-

Fu2022 E
Trost2022 G

GSE1

SP0072877

chr16:
85690955-85690955

A

G

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.A1073G
c.A1166G
c.A1385G

p.H358R
p.H389R
p.H462R

2.189

-

Fu2022 E
Zhou2022 GE

GSE1

SP0045593

chr16:
85690015-85690015

G

GC

exonic

De novo

frameshift insertion

NM_001134473
NM_001278184
NM_014615

c.744_745insC
c.837_838insC
c.1056_1057insC

p.E248fs
p.E279fs
p.E352fs

-

Fu2022 E

GSE1

mAGRE1297

chr16:
85690010-85690012

CGT

C

exonic

Paternal

frameshift deletion

NM_001134473
NM_001278184
NM_014615

c.740_741del
c.833_834del
c.1052_1053del

p.R247fs
p.R278fs
p.R351fs

-

2.0E-4

Cirnigliaro2023 G

GSE1

AU3646301

chr16:
85690010-85690012

CGT

C

exonic

Maternal

frameshift deletion

NM_001134473
NM_001278184
NM_014615

c.740_741del
c.833_834del
c.1052_1053del

p.R247fs
p.R278fs
p.R351fs

-

2.0E-4

Cirnigliaro2023 G

GSE1

AU4235303

chr16:
85646773-85646773

C

T

intronic

De novo

-

Yuen2017 G

GSE1

SP0099287

chr16:
85702004-85702004

T

C

exonic

De novo

nonsynonymous SNV

NM_001134473
NM_001278184
NM_014615

c.T3077C
c.T3170C
c.T3389C

p.F1026S
p.F1057S
p.F1130S

21.0

-

Fu2022 E
Zhou2022 GE

GSE1

UK10K_SKUSE5080176

chr16:
85682214-85682214

T

C

exonic

De novo

nonsynonymous SNV

NM_001278184
NM_014615

c.T64C
c.T283C

p.S22P
p.S95P

15.61

6.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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