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Results for "NLGN1"

Variant Events: 74

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
NLGN1     AU3343301chr3:
173288469-173288469
GAintronicDe novo--Yuen2017 G
NLGN1     7-0161-003chr3:
174550508-174550508
AGintergenicDe novo--Yuen2017 G
NLGN1     AU075207chr3:
174057934-174057934
GAintergenicDe novo--Yuen2017 G
NLGN1     1-0271-004chr3:
173990811-173990814
CTGTCintronicDe novo--Yuen2017 G
NLGN1     1-0522-003chr3:
173839621-173839621
AGintronicDe novo--Yuen2017 G
NLGN1     11729.p1chr3:
173638653-173638653
GCintronicDe novo--Wilfert2021 G
NLGN1     2-1509-003chr3:
173179236-173179236
TAintronicDe novo--Yuen2017 G
NLGN1     1-0508-003chr3:
173788845-173788863
AAAATAAATAAATAAATAAAAAATAAATAAATAAintronicDe novo--Yuen2017 G
NLGN1     2-1567-004chr3:
173967206-173967206
CTintronicDe novo--Yuen2017 G
NLGN1     7-0167-003chr3:
173545877-173545877
GAintronicDe novo--Yuen2017 G
NLGN1     13532.p1chr3:
173417141-173417141
CTintronicDe novo--Wilfert2021 G
NLGN1     1-0511-003chr3:
173427124-173427124
AGintronicDe novo--Yuen2017 G
NLGN1     Lim2017:5921chr3:
173999004-173999004
CTexonicDe novononsynonymous SNVNM_014932c.C2383Tp.H795Y13.598.29E-6Lim2017 E
NLGN1     2-1645-003chr3:
173941316-173941316
CGintronicDe novo--Yuen2017 G
NLGN1     2-1250-003chr3:
173283305-173283305
AGintronicDe novo--Yuen2017 G
NLGN1     1-0113-003chr3:
173665738-173665738
GAintronicDe novo--Yuen2016 G
NLGN1     2-1645-003chr3:
173478220-173478220
ACintronicDe novo--Yuen2017 G
NLGN1     5-0147-003chr3:
174176005-174176005
AGintergenicDe novo--Yuen2017 G
NLGN1     AU1848302chr3:
173926786-173926786
TCintronicDe novo--Yuen2017 G
NLGN1     AU045512chr3:
174421872-174421872
GAintergenicDe novo--Yuen2017 G
NLGN1     2-1169-003chr3:
173996749-173996749
GAexonicDe novononsynonymous SNVNM_014932c.G958Ap.V320I22.28.997E-6Yuen2015 G
Yuen2017 G
NLGN1     1-0367-003chr3:
173724370-173724370
CTintronicDe novo--Yuen2017 G
NLGN1     1-0233-004chr3:
173175256-173175256
AGintronicDe novo--Yuen2017 G
NLGN1     2-1459-003chr3:
173396932-173396932
ATintronicDe novo--Yuen2016 G
Yuen2017 G
NLGN1     7-0247-003chr3:
174518646-174518646
TGintergenicDe novo--Yuen2017 G
NLGN1     5-0088-003chr3:
173213683-173213683
AGintronicDe novo--Yuen2017 G
NLGN1     3-0080-000chr3:
173739704-173739704
AGintronicDe novo--Yuen2017 G
NLGN1     2-0019-004chr3:
173317743-173317743
AGintronicDe novo--Yuen2017 G
NLGN1     7-0171-003chr3:
173196018-173196018
AGintronicDe novo--Yuen2017 G
NLGN1     AU066206chr3:
174138695-174138695
ACintergenicDe novo--Yuen2017 G
NLGN1     12061.p1chr3:
174462029-174462029
GAintergenicDe novo--Werling2018 G
NLGN1     2-1562-004chr3:
173917005-173917005
GAintronicDe novo--Yuen2017 G
NLGN1     1-0546-003chr3:
173206925-173206925
GCintronicDe novo--Yuen2017 G
NLGN1     AU3918301chr3:
174286819-174286819
TCintergenicDe novo--Yuen2017 G
NLGN1     AU034903chr3:
174250901-174250901
ATintergenicDe novo--Yuen2017 G
NLGN1     2-1246-003chr3:
173866933-173866933
CTintronicDe novo--Yuen2017 G
NLGN1     AU3866301chr3:
173574465-173574465
AGintronicDe novo--Yuen2017 G
NLGN1     1-0488-003chr3:
173687506-173687506
AGintronicDe novo--Yuen2017 G
NLGN1     12157.p1chr3:
173999004-173999004
CTexonicDe novononsynonymous SNVNM_014932c.C2383Tp.H795Y13.598.29E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
NLGN1     5-0041-003chr3:
173322947-173322947
AGintronicDe novo--Yuen2017 G
NLGN1     7-0032-003chr3:
173185704-173185704
CTintronicDe novo--Yuen2017 G
NLGN1     63-449chr3:
173587492-173587492
GAintronicDe novo--Michaelson2012 G
NLGN1     74-0355chr3:
173687597-173687597
CTintronicDe novo--Michaelson2012 G
NLGN1     1-0701-003chr3:
173399716-173399716
CTintronicDe novo--Yuen2017 G
NLGN1     AU079104chr3:
173706228-173706228
TAintronicDe novo--Yuen2017 G
NLGN1     AU2123301chr3:
173896452-173896452
TGintronicDe novo--Yuen2017 G
NLGN1     74-0075chr3:
173240608-173240608
GAintronicDe novo--Michaelson2012 G
NLGN1     AU007503chr3:
173240608-173240608
GAintronicDe novo--Yuen2017 G
NLGN1     1-0384-003chr3:
173256559-173256559
GAintronicDe novo--Yuen2017 G
NLGN1     1-0175-004chr3:
173432815-173432815
CTintronicDe novo--Yuen2017 G
NLGN1     2-0295-004chr3:
173465821-173465821
CGintronicDe novo--Yuen2017 G
NLGN1     1-0344-003chr3:
174497967-174497967
AGintergenicDe novo--Yuen2017 G
NLGN1     1-0344-003chr3:
173908131-173908131
ATintronicDe novo--Yuen2017 G
NLGN1     AU066104chr3:
173591940-173591940
AGintronicDe novo--Yuen2017 G
NLGN1     AU061104chr3:
173453907-173453907
AGintronicDe novo--Yuen2017 G
NLGN1     AU4092302chr3:
174147305-174147305
GAintergenicDe novo--Yuen2017 G
NLGN1     2-1297-004chr3:
173770967-173770971
AACTTAintronicDe novo--Yuen2017 G
NLGN1     AU3787303chr3:
174036494-174036494
GAintergenicDe novo--Yuen2017 G
NLGN1     AU3787303chr3:
174312276-174312285
GTTCTTCTTCGTTCTTCintergenicDe novo--Yuen2017 G
NLGN1     1-0321-004chr3:
173583394-173583394
CGintronicDe novo--Yuen2017 G
NLGN1     7-0103-003chr3:
174488297-174488297
AGintergenicDe novo--Yuen2017 G
NLGN1     2-1341-003chr3:
173900683-173900683
AGintronicDe novo--Yuen2017 G
NLGN1     1-0991-003chr3:
174291792-174291792
AGintergenicDe novo--Yuen2017 G
NLGN1     7-0242-003chr3:
173561048-173561048
CTintronicDe novo--Yuen2017 G
NLGN1     1-0175-003chr3:
173432815-173432815
CTintronicDe novo--Yuen2017 G
NLGN1     AU031004chr3:
173420599-173420599
TCintronicDe novo--Yuen2017 G
NLGN1     1-0339-004chr3:
173539217-173539217
TCintronicDe novo--Yuen2017 G
NLGN1     2-0018-004chr3:
174462116-174462116
TTAintergenicDe novo--Yuen2017 G
NLGN1     1-0567-004chr3:
173449055-173449055
AGintronicDe novo--Yuen2017 G
NLGN1     13951.p1chr3:
174077344-174077344
GAintergenicDe novo--Turner2016 G
NLGN1     1-0252-003chr3:
173138329-173138329
CTintronicDe novo--Yuen2017 G
NLGN1     AU1860301chr3:
173551100-173551100
GTintronicDe novo--Yuen2017 G
NLGN1     AU4476302chr3:
174329405-174329405
GAintergenicDe novo--Yuen2017 G
NLGN1     14496.p1chr3:
173184782-173184782
AGintronicDe novo--Turner2016 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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