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Results for "SVIL"

Variant Events: 37

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.p1chr10:
29760093-29760093
CTexonicPaternalnonsynonymous SNVNM_003174
NM_021738
c.G4331A
c.G5609A
p.R1444Q
p.R1870Q
37.01.826E-5Guo2018 T
SVIL     08C73740chr10:
29769625-29769625
CAexonicDe novostopgainNM_003174
NM_021738
c.G3940T
c.G5218T
p.E1314X
p.E1740X
48.0-Neale2012 E
SVIL     GX0023.p1chr10:
29773693-29773693
CTexonicPaternalnonsynonymous SNVNM_003174
NM_021738
c.G3569A
c.G4847A
p.R1190Q
p.R1616Q
34.0-Guo2018 T
SVIL     2-1357-003chr10:
30064393-30064393
CTintergenicDe novo--Yuen2017 G
SVIL     1-0203-004chr10:
30248007-30248007
TAintergenicDe novo--Yuen2017 G
SVIL     2-0102-003chr10:
29893352-29893352
CTintronicDe novo--Yuen2017 G
SVIL     2-0149-005chr10:
29923122-29923122
TTAintronicDe novo--Yuen2017 G
SVIL     iHART1408chr10:
29812728-29812728
CAexonicMaternalstopgainNM_003174
NM_021738
c.G1537T
c.G2815T
p.E513X
p.E939X
45.0-Ruzzo2019 G
SVIL     14559.p1chr10:
29843774-29843774
CTexonicMosaicnonsynonymous SNVNM_021738
NM_003174
c.G98A
c.G98A
p.R33H
p.R33H
28.2-Dou2017 E
SVIL     AU4145301chr10:
30047223-30047223
CTintergenicDe novo--Yuen2017 G
SVIL     1-0871-003chr10:
30114007-30114007
ACintergenicDe novo--Yuen2017 G
SVIL     13965.p1chr10:
29782250-29782250
AGexonicDe novosynonymous SNVNM_003174
NM_021738
c.T2634C
c.T3912C
p.D878D
p.D1304D
--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SVIL     1-0558-003chr10:
29833184-29833184
AGintronicDe novo--Yuen2017 G
SVIL     1255JS0030chr10:
29769625-29769625
CAexonicDe novostopgainNM_003174
NM_021738
c.G3940T
c.G5218T
p.E1314X
p.E1740X
48.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SVIL     AU1940304chr10:
30111355-30111355
TCintergenicDe novo--Yuen2017 G
SVIL     2-0242-005chr10:
30260476-30260476
CGintergenicDe novo--Yuen2017 G
SVIL     3-0456-000Bchr10:
30204467-30204467
CTintergenicDe novo--Yuen2017 G
SVIL     1-0354-003chr10:
30279385-30279385
TCintergenicDe novo--Yuen2017 G
SVIL     PN400287chr10:
29759274-29759274
CAexonicUnknownnonsynonymous SNVNM_003174
NM_021738
c.G4496T
c.G5774T
p.W1499L
p.W1925L
35.0-Leblond2019 E
SVIL     1-0627-004chr10:
30295949-30295949
TCintergenicDe novo--Yuen2017 G
SVIL     211-5353-3chr10:
29773609-29773609
CTexonicUnknownnonsynonymous SNVNM_003174
NM_021738
c.G3653A
c.G4931A
p.G1218E
p.G1644E
26.5-Stessman2017 T
SVIL     1-0218-003chr10:
29887267-29887267
CGintronicDe novo--Yuen2017 G
SVIL     2-0043-003chr10:
30142559-30142559
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SVIL     3-0456-000chr10:
30204467-30204467
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SVIL     211-5576-3chr10:
29801768-29801768
CTexonicUnknownnonsynonymous SNVNM_003174
NM_021738
c.G2134A
c.G3412A
p.G712R
p.G1138R
20.72.488E-5Stessman2017 T
SVIL     AU2089301chr10:
30099666-30099666
CTintergenicDe novo--Yuen2017 G
SVIL     AU4060306chr10:
29851692-29851703
AAAAAAGAAAAAAAAAAAintronicDe novo--Yuen2017 G
SVIL     ASDFI_1007chr10:
29760131-29760131
CTexonicDe novosynonymous SNVNM_003174
NM_021738
c.G4293A
c.G5571A
p.Q1431Q
p.Q1857Q
--Lim2017 E
SVIL     A3chr10:
29926216-29926216
CTintronicDe novo--Wu2018 G
SVIL     7-0023-003chr10:
29782560-29782560
AGintronicDe novo--Yuen2017 G
SVIL     AU066104chr10:
30155884-30155884
GAintergenicDe novo--Yuen2017 G
SVIL     AU2951302chr10:
30134669-30134669
CAintergenicDe novo--Yuen2017 G
SVIL     220-9845-201chr10:
29788083-29788083
GAexonicUnknownnonsynonymous SNVNM_003174
NM_021738
c.C2348T
c.C3626T
p.S783L
p.S1209L
25.38.637E-6Stessman2017 T
SVIL     AU080103 Complex Event; expand row to view variants  Maternalstopgain, nonsynonymous SNVNM_003174
NM_021738
NM_003174
NM_021738
c.G1537A
c.G2815A
c.G1537T
c.G2815T
p.E513K
p.E939K
p.E513X
p.E939X
45.08.237E-5Stessman2017 T
Stessman2017 T
SVIL     1-0339-003chr10:
30204732-30204732
CGintergenicDe novo--Yuen2017 G
SVIL     3-0458-000Achr10:
29953605-29953621
TTATATATATATATATATTATATATATATATAintronicDe novo--Yuen2017 G
SVIL     AU066104chr10:
30054968-30054968
TAintergenicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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
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