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Results for "CNTN3"

Variant Events: 97

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
CNTN3     14590.p1chr3:
74618317-74618317
CAintergenicDe novo--Turner2016 G
CNTN3     11194.p1chr3:
74917735-74917735
GTintergenicDe novo--Turner2016 G
CNTN3     AU1521301chr3:
73830574-73830574
GTintergenicDe novo--Yuen2017 G
CNTN3     AU4379301chr3:
74362846-74362846
TCintronicDe novo--Yuen2017 G
CNTN3     12680.p1chr3:
74222098-74222098
GTintergenicDe novo--Turner2016 G
CNTN3     14482.p1chr3:
74413343-74413343
TCintronicDe novo--Turner2016 G
CNTN3     111292chr3:
74474010-74474010
GAexonicnonsynonymous SNVNM_020872c.C440Tp.P147L20.6-Woodbury-Smith2022 E
CNTN3     AU3853302chr3:
74391882-74391882
AGintronicDe novo--Yuen2017 G
CNTN3     2-0012-004chr3:
74001948-74001948
CTintergenicDe novo--Yuen2017 G
CNTN3     2-1384-003chr3:
75194026-75194026
CTintergenicDe novo--Yuen2017 G
CNTN3     AU4079301chr3:
74959142-74959142
GAintergenicDe novo--Yuen2017 G
CNTN3     7-0002-003chr3:
73933958-73933958
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0261-004chr3:
74020059-74020063
GATCAGintergenicDe novo--Yuen2017 G
CNTN3     A26chr3:
74120798-74120798
TCintergenicDe novo--Wu2018 G
CNTN3     1-0484-003chr3:
73684949-73684949
TCintergenicDe novo--Yuen2017 G
CNTN3     AU050604chr3:
73752694-73752694
AGintergenicDe novo--Yuen2017 G
CNTN3     2-1581-003chr3:
74630350-74630350
CTintergenicDe novo--Yuen2017 G
CNTN3     7-0253-003chr3:
74194942-74194942
AGintergenicDe novo--Yuen2017 G
CNTN3     1-0394-003chr3:
74070654-74070654
CTintergenicDe novo--Yuen2017 G
CNTN3     AU4015301chr3:
74582471-74582471
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0763-003chr3:
73957915-73957915
GAintergenicDe novo--Yuen2017 G
CNTN3     AU4410302chr3:
73979448-73979448
GCintergenicDe novo--Yuen2017 G
CNTN3     1-0138-003chr3:
74765701-74765701
GTintergenicDe novo--Yuen2017 G
CNTN3     AU038204chr3:
75146109-75146109
TCintergenicDe novo--Yuen2017 G
CNTN3     AU3849302chr3:
74121899-74121899
GTintergenicDe novo--Yuen2017 G
CNTN3     AU4260303 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CNTN3     1-0065-005chr3:
74127327-74127327
CTintergenicDe novo--Yuen2017 G
CNTN3     AU3794301chr3:
74953649-74953649
TCintergenicDe novo--Yuen2017 G
CNTN3     2-1170-003chr3:
75194048-75194048
GAintergenicDe novo--Yuen2017 G
CNTN3     2-0298-003chr3:
74397726-74397726
CAintronicDe novo--Yuen2017 G
CNTN3     7-0082-003chr3:
74628272-74628272
CAintergenicDe novo--Yuen2017 G
CNTN3     7-0219-003chr3:
74843234-74843234
CAintergenicDe novo--Yuen2017 G
CNTN3     1-0191-004chr3:
74828264-74828264
CTintergenicDe novo--Yuen2017 G
CNTN3     AU3713301chr3:
74115830-74115830
GAintergenicDe novo--Yuen2017 G
CNTN3     F1-003chr3:
74334560-74334560
CTexonicPaternalnonsynonymous SNVNM_020872c.G2600Ap.R867Q9.9220.0318Vaags2012 E
CNTN3     1-0226-005chr3:
74186246-74186246
TCintergenicDe novo--Yuen2017 G
CNTN3     AU4033304chr3:
73966476-73966476
AGintergenicDe novo--Yuen2017 G
CNTN3     1-0305-004chr3:
74934245-74934245
TCintergenicDe novo--Yuen2017 G
CNTN3     AU2139303chr3:
74703801-74703801
TCintergenicDe novo--Yuen2017 G
CNTN3     1-0303-003chr3:
74649497-74649497
CTintergenicDe novo--Yuen2017 G
CNTN3     AU046703chr3:
74844538-74844538
ACintergenicDe novo--Yuen2017 G
CNTN3     13076.p1chr3:
73873772-73873776
CAAATCintergenicDe novo--Werling2018 G
CNTN3     7-0127-003chr3:
74860441-74860444
AGGGAintergenicDe novo--Yuen2017 G
CNTN3     1-0028-003chr3:
74104342-74104342
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0184-003chr3:
73788583-73788583
CAintergenicDe novo--Yuen2017 G
CNTN3     AU4467302chr3:
74664123-74664123
GAintergenicDe novo--Yuen2017 G
CNTN3     1-0552-003chr3:
73949448-73949465
AAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
CNTN3     AU043804chr3:
75020540-75020540
GAintergenicDe novo--Yuen2017 G
CNTN3     AU003403chr3:
74268640-74268640
CTintergenicDe novo--Yuen2017 G
CNTN3     14244.p1chr3:
73795863-73795863
GAintergenicDe novo--Wilfert2021 G
CNTN3     1-0265-003chr3:
74985218-74985218
TTCintergenicDe novo--Yuen2017 G
CNTN3     1-0006-003chr3:
73686874-73686874
TGintergenicDe novo--Yuen2017 G
CNTN3     3-0458-000chr3:
74488438-74488438
AGintronicDe novo--Yuen2016 G
CNTN3     3-0458-000Achr3:
74488438-74488438
AGintronicDe novo--Yuen2017 G
CNTN3     7-0095-003chr3:
74760625-74760625
CTintergenicDe novo--Yuen2017 G
CNTN3     AU4344301chr3:
74492093-74492093
CTintronicDe novo--Yuen2017 G
CNTN3     AU076808chr3:
74867255-74867255
CTintergenicDe novo--Yuen2017 G
CNTN3     5-0017-003chr3:
73934230-73934231
ATAintergenicDe novo--Yuen2017 G
CNTN3     1-0320-004chr3:
74513862-74513862
CTintronicDe novo--Yuen2017 G
CNTN3     7-0058-003chr3:
73981891-73981891
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0385-003chr3:
74808009-74808009
AGintergenicDe novo--Yuen2017 G
CNTN3     1-0112-004chr3:
74765671-74765671
CCAAintergenicDe novo--Yuen2017 G
CNTN3     AU4168306chr3:
74444921-74444921
TGintronicDe novo--Yuen2017 G
CNTN3     2-0003-003chr3:
74992622-74992626
ATTGTAintergenicDe novo--Yuen2017 G
CNTN3     AU015903chr3:
74616203-74616203
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0261-003chr3:
74020059-74020063
GATCAGintergenicDe novo--Yuen2017 G
CNTN3     1-0150-003chr3:
74798877-74798877
CTintergenicDe novo--Yuen2017 G
CNTN3     2-1529-003chr3:
73997762-73997775
TTATATATATATATTTATATATATATintergenicDe novo--Yuen2017 G
CNTN3     1-0161-004chr3:
73697680-73697680
CTintergenicDe novo--Yuen2017 G
CNTN3     1-0197-004chr3:
74889512-74889512
AATAGAGATintergenicDe novo--Yuen2017 G
CNTN3     2-0223-003chr3:
74760762-74760762
CTintergenicDe novo--Yuen2017 G
CNTN3     2-0299-005chr3:
74574614-74574614
GAintergenicDe novo--Yuen2017 G
CNTN3     2-0223-003chr3:
74757195-74757195
CTintergenicDe novo--Yuen2017 G
CNTN3     2-0223-003chr3:
74756047-74756047
TGintergenicDe novo--Yuen2017 G
CNTN3     2-0122-003chr3:
74455998-74455998
GCintronicDe novo--Yuen2017 G
CNTN3     1-0295-003chr3:
75227766-75227766
CTintergenicDe novo--Yuen2017 G
CNTN3     AU075803chr3:
74660365-74660365
AGintergenicDe novo--Yuen2017 G
CNTN3     7-0012-003chr3:
74549275-74549275
GAintronicDe novo--Yuen2017 G
CNTN3     1-0404-003chr3:
73772520-73772520
GCintergenicDe novo--Yuen2017 G
CNTN3     5-0146-003chr3:
74940000-74940000
GAintergenicDe novo--Yuen2017 G
CNTN3     AU3900301chr3:
73888072-73888077
GAACAAGAAintergenicDe novo--Yuen2017 G
CNTN3     AU4191302chr3:
74356541-74356541
CTintronicDe novo--Yuen2017 G
CNTN3     2-0022-004chr3:
75016289-75016289
AGintergenicDe novo--Yuen2017 G
CNTN3     AU3765302chr3:
74416263-74416263
TCintronicDe novo--Yuen2017 G
CNTN3     1-0253-004chr3:
75115783-75115783
CGintergenicDe novo--Yuen2017 G
CNTN3     AU2140305chr3:
74304345-74304345
ATintergenicDe novo--Yuen2017 G
CNTN3     1-0806-003chr3:
73751926-73751926
TGintergenicDe novo--Yuen2017 G
CNTN3     1-0593-003chr3:
73962071-73962071
TCintergenicDe novo--Yuen2017 G
CNTN3     3-0458-000Bchr3:
74488438-74488438
AGintronicDe novo--Yuen2017 G
CNTN3     2-1511-003chr3:
74624433-74624433
CTintergenicDe novo--Yuen2017 G
CNTN3     AU4211304chr3:
74434225-74434225
CTintronicDe novo--Yuen2017 G
CNTN3     2-1391-004chr3:
74524293-74524293
TTATGGGGTTAAGCintronicDe novo--Yuen2017 G
CNTN3     2-1176-003chr3:
73776820-73776820
GAintergenicDe novo--Yuen2017 G
CNTN3     2-1343-003chr3:
74542505-74542505
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CNTN3     2-0135-003chr3:
74754687-74754687
GAintergenicDe novo--Yuen2017 G
CNTN3     AU030703chr3:
74600186-74600186
TCintergenicDe novo--Yuen2017 G
CNTN3     AU1795302chr3:
75132526-75132526
TGintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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