Variant Results

or

Results for "SVIL"

Variant Events: 40

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

SVIL

GX0071.p1

chr10:
29760093-29760093

C

T

exonic

Paternal

nonsynonymous SNV

NM_003174
NM_021738

c.G4331A
c.G5609A

p.R1444Q
p.R1870Q

37.0

1.826E-5

Guo2018 T

SVIL

08C73740

chr10:
29769625-29769625

C

A

exonic

De novo

stopgain

NM_003174
NM_021738

c.G3940T
c.G5218T

p.E1314X
p.E1740X

48.0

-

Neale2012 E

SVIL

GX0023.p1

chr10:
29773693-29773693

C

T

exonic

Paternal

nonsynonymous SNV

NM_003174
NM_021738

c.G3569A
c.G4847A

p.R1190Q
p.R1616Q

34.0

-

Guo2018 T

SVIL

2-1357-003

chr10:
30064393-30064393

C

T

intergenic

De novo

-

Yuen2017 G

SVIL

1-0203-004

chr10:
30248007-30248007

T

A

intergenic

De novo

-

Yuen2017 G

SVIL

2-0102-003

chr10:
29893352-29893352

C

T

intronic

De novo

-

Yuen2017 G

SVIL

2-0149-005

chr10:
29923122-29923122

T

TA

intronic

De novo

-

Yuen2017 G

SVIL

iHART1408

chr10:
29812728-29812728

C

A

exonic

Maternal

stopgain

NM_003174
NM_021738

c.G1537T
c.G2815T

p.E513X
p.E939X

45.0

-

Ruzzo2019 G

SVIL

14559.p1

chr10:
29843774-29843774

C

T

exonic

Mosaic

nonsynonymous SNV

NM_021738
NM_003174

c.G98A
c.G98A

p.R33H
p.R33H

28.2

-

Dou2017 E

SVIL

AU4145301

chr10:
30047223-30047223

C

T

intergenic

De novo

-

Yuen2017 G

SVIL

13965_p1

chr10:
29782250-29782250

A

G

exonic

De novo

synonymous SNV

NM_003174
NM_021738

c.T2634C
c.T3912C

p.D878D
p.D1304D

-

Fu2022 E

SVIL

1-0871-003

chr10:
30114007-30114007

A

C

intergenic

De novo

-

Yuen2017 G

SVIL

SSC07901

chr10:
29769696-29769696

A

C

exonic

De novo

nonsynonymous SNV

NM_003174
NM_021738

c.T3869G
c.T5147G

p.V1290G
p.V1716G

16.89

-

Fu2022 E

SVIL

13965.p1

chr10:
29782250-29782250

A

G

exonic

De novo

synonymous SNV

NM_003174
NM_021738

c.T2634C
c.T3912C

p.D878D
p.D1304D

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SVIL

1-0558-003

chr10:
29833184-29833184

A

G

intronic

De novo

-

Yuen2017 G

SVIL

1255JS0030

chr10:
29769625-29769625

C

A

exonic

De novo

stopgain

NM_003174
NM_021738

c.G3940T
c.G5218T

p.E1314X
p.E1740X

48.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SVIL

AU1940304

chr10:
30111355-30111355

T

C

intergenic

De novo

-

Yuen2017 G

SVIL

2-0242-005

chr10:
30260476-30260476

C

G

intergenic

De novo

-

Yuen2017 G

SVIL

3-0456-000B

chr10:
30204467-30204467

C

T

intergenic

De novo

-

Yuen2017 G

SVIL

1-0354-003

chr10:
30279385-30279385

T

C

intergenic

De novo

-

Yuen2017 G

SVIL

PN400287

chr10:
29759274-29759274

C

A

exonic

Unknown

nonsynonymous SNV

NM_003174
NM_021738

c.G4496T
c.G5774T

p.W1499L
p.W1925L

35.0

-

Leblond2019 E

SVIL

1-0627-004

chr10:
30295949-30295949

T

C

intergenic

De novo

-

Yuen2017 G

SVIL

211-5353-3

chr10:
29773609-29773609

C

T

exonic

Unknown

nonsynonymous SNV

NM_003174
NM_021738

c.G3653A
c.G4931A

p.G1218E
p.G1644E

26.5

-

Stessman2017 T

SVIL

1-0218-003

chr10:
29887267-29887267

C

G

intronic

De novo

-

Yuen2017 G

SVIL

2-0043-003

chr10:
30142559-30142559

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SVIL

3-0456-000

chr10:
30204467-30204467

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SVIL

211-5576-3

chr10:
29801768-29801768

C

T

exonic

Unknown

nonsynonymous SNV

NM_003174
NM_021738

c.G2134A
c.G3412A

p.G712R
p.G1138R

20.7

2.488E-5

Stessman2017 T

SVIL

AU2089301

chr10:
30099666-30099666

C

T

intergenic

De novo

-

Yuen2017 G

SVIL

AU4060306

chr10:
29851692-29851703

AAAAAAGAAAAA

AAAAAA

intronic

De novo

-

Yuen2017 G

SVIL

ASDFI_1007

chr10:
29760131-29760131

C

T

exonic

De novo

synonymous SNV

NM_003174
NM_021738

c.G4293A
c.G5571A

p.Q1431Q
p.Q1857Q

-

Lim2017 E

SVIL

A3

chr10:
29926216-29926216

C

T

intronic

De novo

-

Wu2018 G

SVIL

7-0023-003

chr10:
29782560-29782560

A

G

intronic

De novo

-

Yuen2017 G

SVIL

AU066104

chr10:
30155884-30155884

G

A

intergenic

De novo

-

Yuen2017 G

SVIL

SP0132700

chr10:
29797405-29797405

A

C

intronic

De novo

-

Fu2022 E

SVIL

AU2951302

chr10:
30134669-30134669

C

A

intergenic

De novo

-

Yuen2017 G

SVIL

220-9845-201

chr10:
29788083-29788083

G

A

exonic

Unknown

nonsynonymous SNV

NM_003174
NM_021738

c.C2348T
c.C3626T

p.S783L
p.S1209L

25.3

8.637E-6

Stessman2017 T

SVIL

AU080103

Complex Event; expand row to view variants

Maternal

nonsynonymous SNV, stopgain

NM_003174
NM_021738
NM_003174
NM_021738

c.G1537A
c.G2815A
c.G1537T
c.G2815T

p.E513K
p.E939K
p.E513X
p.E939X

45.0

8.237E-5

Stessman2017 T
Stessman2017 T

SVIL

1-0339-003

chr10:
30204732-30204732

C

G

intergenic

De novo

-

Yuen2017 G

SVIL

3-0458-000A

chr10:
29953605-29953621

TTATATATATATATATA

TTATATATATATATA

intronic

De novo

-

Yuen2017 G

SVIL

AU066104

chr10:
30054968-30054968

T

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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