or
or
Exact

Results for "CNTN1"

Variant Events: 66

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
CNTN1     A13chr12:
41459212-41459212
TCintronicDe novo--Wu2018 G
CNTN1     2-1163-003chr12:
41491204-41491204
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CNTN1     1-0255-003chr12:
41466782-41466782
TCdownstreamDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CNTN1     2-1245-003chr12:
41384406-41384411
CTACTTCTintronicDe novo--Yuen2017 G
CNTN1     AU072504chr12:
41373440-41373440
AGintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     2-1283-003chr12:
41270762-41270763
TGTintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     AU3716301chr12:
41262324-41262324
AGintronicDe novo--Yuen2017 G
CNTN1     2-0219-004chr12:
41430887-41430887
TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     AU2292302chr12:
41159955-41159955
TCintronicDe novo--Yuen2017 G
CNTN1     1-0625-003chr12:
41105765-41105765
TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     1-0389-004chr12:
41463987-41463987
GTUTR3De novo--Trost2022 G
Yuen2017 G
CNTN1     REACH000359chr12:
41414203-41414203
TCexonicDe novosynonymous SNVNM_175038
NM_001843
c.T2451C
c.T2484C
p.H817H
p.H828H
-8.309E-6Trost2022 G
Zhou2022 GE
CNTN1     2-0240-004chr12:
41510294-41510294
GAintergenicDe novo--Yuen2017 G
CNTN1     AU4033305chr12:
41258085-41258085
GCintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     1-0467-003chr12:
41567357-41567357
GAintergenicDe novo--Yuen2017 G
CNTN1     2-0320-003chr12:
41200474-41200474
TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     5-0084-003chr12:
41496191-41496191
GTintergenicDe novo--Yuen2017 G
CNTN1     1-0572-003chr12:
41188665-41188666
TGTintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     1-0265-004chr12:
41473023-41473023
AGintergenicDe novo--Yuen2017 G
CNTN1     1-0265-003chr12:
41473023-41473023
AGintergenicDe novo--Yuen2017 G
CNTN1     SJD_59.3chr12:
41134716-41134716
TCintronicDe novo--Trost2022 G
CNTN1     1-1183-003chr12:
41143592-41143592
GCintronicDe novo--Trost2022 G
CNTN1     MSSNG00421-008chr12:
41127465-41127465
TTAintronicDe novo--Trost2022 G
CNTN1     5-0023-003chr12:
41130870-41130870
CGintronicDe novo--Trost2022 G
CNTN1     1-1010-003chr12:
41126577-41126577
CAintronicDe novo--Trost2022 G
CNTN1     2-1266-003chr12:
41092326-41092326
CTintronicDe novo--Yuen2017 G
CNTN1     7-0389-003chr12:
41237595-41237595
ACintronicDe novo--Trost2022 G
CNTN1     2-1366-003chr12:
41523570-41523570
TGintergenicDe novo--Yuen2017 G
CNTN1     SP0009720chr12:
41327638-41327638
AGexonicDe novononsynonymous SNVNM_175038
NM_001256063
NM_001256064
NM_001843
c.A910G
c.A943G
c.A943G
c.A943G
p.I304V
p.I315V
p.I315V
p.I315V
6.019-Fu2022 E
Trost2022 G
Zhou2022 GE
CNTN1     Wang2023:315chr12:
41374707-41374716
TCAGGCCCTCTexonicDe novononframeshift deletionNM_175038
NM_001843
c.1772_1777del
c.1805_1810del
p.591_593del
p.602_604del
-8.253E-6Wang2023 E
CNTN1     5-5177-003chr12:
41240806-41240806
GAintronicDe novo--Trost2022 G
CNTN1     3-0534-000chr12:
41221057-41221057
AGintronicDe novo--Trost2022 G
CNTN1     AU2310301chr12:
41235595-41235595
GAintronicDe novo--Trost2022 G
CNTN1     REACH000762chr12:
41143592-41143592
GCintronicDe novo--Trost2022 G
CNTN1     REACH000655chr12:
41190105-41190105
AGintronicDe novo--Trost2022 G
CNTN1     1-0336-003chr12:
41244123-41244123
AGintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     SP0080896chr12:
41312558-41312558
CGexonicDe novononsynonymous SNVNM_175038
NM_001256063
NM_001256064
NM_001843
c.C179G
c.C212G
c.C212G
c.C212G
p.P60R
p.P71R
p.P71R
p.P71R
25.4-Fu2022 E
Trost2022 G
Zhou2022 GE
CNTN1     AU3779301chr12:
41143592-41143592
GCintronicDe novo--Trost2022 G
CNTN1     AU024104chr12:
41480684-41480684
ACintergenicDe novo--Yuen2017 G
CNTN1     MT_82.3chr12:
41143592-41143592
GCintronicDe novo--Trost2022 G
CNTN1     MT_19.3chr12:
41387827-41387827
GCintronicDe novo--Trost2022 G
CNTN1     14482.p1chr12:
41297883-41297883
CGintronicDe novo--Turner2016 G
CNTN1     5-5123-004chr12:
41394804-41394804
AGintronicDe novo--Trost2022 G
CNTN1     MT_82.3chr12:
41347206-41347206
CAintronicDe novo--Trost2022 G
CNTN1     2-1205-003chr12:
41125788-41125788
GCintronicDe novo--Yuen2016 G
Yuen2017 G
CNTN1     1-0548-003chr12:
41381241-41381241
CTintronicDe novo--Trost2022 G
CNTN1     12529.p1chr12:
41579254-41579254
TGintergenicDe novo--Turner2016 G
CNTN1     3-0467-000chr12:
41321596-41321596
CTintronicDe novo--Trost2022 G
CNTN1     MSSNG00372-003chr12:
41329417-41329417
GTintronicDe novo--Trost2022 G
CNTN1     12680.p1chr12:
41453658-41453658
ACintronicDe novo--Turner2016 G
CNTN1     4-0062-003chr12:
41267719-41267721
TCAACCintronicDe novo--Trost2022 G
CNTN1     13649.p1chr12:
41524958-41524958
GAintergenicDe novo--Turner2016 G
CNTN1     1647001chr12:
41312578-41312578
TAintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CNTN1     5-0076-003chr12:
41277648-41277648
AGintronicDe novo--Trost2022 G
CNTN1     1-0206-005chr12:
41502672-41502672
GTintergenicDe novo--Yuen2017 G
CNTN1     AU2100302chr12:
41136508-41136508
TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     1-0585-003chr12:
41098467-41098467
CAintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     REACH000540chr12:
41438800-41438801
CTCintronicDe novo--Trost2022 G
CNTN1     5-5072-003chr12:
41453320-41453320
GCintronicDe novo--Trost2022 G
CNTN1     1-0777-003chr12:
41180115-41180115
CTintronicDe novo--Yuen2017 G
CNTN1     AU1640302chr12:
41332355-41332355
CGintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     3-0099-000chr12:
41396878-41396878
GAintronicDe novo--Trost2022 G
CNTN1     AU2292301chr12:
41159955-41159955
TCintronicDe novo--Yuen2017 G
CNTN1     MSSNG00117-003chr12:
41397864-41397864
TCintronicDe novo--Trost2022 G
CNTN1     AU3125301chr12:
41236322-41236322
TGintronicDe novo--Trost2022 G
Yuen2017 G
CNTN1     2-1283-004chr12:
41270762-41270763
TGTintronicDe 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 notesView
More