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Results for "NCAM2"

Variant Events: 73

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
NCAM2     2-1592-003chr21:
22427518-22427534
TATAATAATAATAATAATATAATAATAATAATAATAAintronicDe novo--Yuen2017 G
NCAM2     AU3808304chr21:
22751393-22751393
TCintronicDe novo--Yuen2017 G
NCAM2     1-0142-005chr21:
22421165-22421165
TGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0417-003chr21:
22915217-22915217
GCintergenicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NCAM2     1-0121-003chr21:
22555158-22555158
CTintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     11089.p1chr21:
22658786-22658786
TAintronicDe novo--Turner2016 G
NCAM2     11002.p1chr21:
22536015-22536015
CGintronicDe novo--Turner2016 G
NCAM2     2-1562-004chr21:
22516011-22516011
AGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0024-003chr21:
23092744-23092744
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NCAM2     7-0411-003chr21:
22388106-22388106
CTintronicDe novo--Trost2022 G
NCAM2     14111.p1chr21:
22906842-22906842
CTintronicDe novo--Krumm2015 E
NCAM2     2-0102-004chr21:
22401761-22401761
CCTAintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     5-0020-003chr21:
22580795-22580795
AGintronicDe novo--Trost2022 G
NCAM2     4-0084-003chr21:
22578915-22578915
GAintronicDe novo--Trost2022 G
NCAM2     MSSNG00381-003chr21:
22485559-22485559
GTintronicDe novo--Trost2022 G
NCAM2     DEASD_0153_001chr21:
22658742-22658742
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
NCAM2     AU2333302chr21:
22861926-22861926
TCintronicDe novo--Yuen2017 G
NCAM2     7-0311-003chr21:
22483239-22483239
CTintronicDe novo--Trost2022 G
NCAM2     2-1089-004chr21:
22856166-22856166
TGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     3-0215-000chr21:
22481776-22481777
CTCintronicDe novo--Trost2022 G
NCAM2     2-0285-004chr21:
22640223-22640223
TTAintronicDe novo--Yuen2017 G
NCAM2     REACH000705chr21:
22462964-22462964
CTintronicDe novo--Trost2022 G
NCAM2     AU024606chr21:
22420690-22420690
ATintronicDe novo--Trost2022 G
NCAM2     MSSNG00173-003chr21:
22390053-22390053
AGintronicDe novo--Trost2022 G
NCAM2     MT_188.3chr21:
22696263-22696263
CTintronicDe novo--Trost2022 G
NCAM2     MSSNG00403-003chr21:
22639557-22639557
AGintronicDe novo--Trost2022 G
NCAM2     7-0151-003chr21:
22936083-22936083
CAintergenicDe novo--Yuen2017 G
NCAM2     AU1725306chr21:
22393370-22393370
AGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     7-0405-004chr21:
22637809-22637809
CAintronicDe novo--Trost2022 G
NCAM2     MSSNG00112-003chr21:
22637721-22637721
TAintronicDe novo--Trost2022 G
NCAM2     AU021204chr21:
22540429-22540429
CGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     2-1723-003chr21:
22633119-22633120
GAATintronicDe novo--Trost2022 G
NCAM2     1-0579-003chr21:
22714870-22714870
CTintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     3-0278-000chr21:
22631786-22631786
CTintronicDe novo--Trost2022 G
NCAM2     2-1729-003chr21:
22933136-22933136
CTintergenicDe novo--Yuen2017 G
NCAM2     MSSNG00241-003chr21:
22607092-22607092
AGintronicDe novo--Trost2022 G
NCAM2     1-0630-003chr21:
22582532-22582532
CTintronicDe novo--Trost2022 G
NCAM2     AU1742302chr21:
22809253-22809253
TAintronicDe novo--Trost2022 G
NCAM2     MSSNG00407-003chr21:
22776978-22776978
GAintronicDe novo--Trost2022 G
NCAM2     5-5146-004chr21:
22756302-22756302
ATintronicDe novo--Trost2022 G
NCAM2     4-0037-004chr21:
22755846-22755846
GTintronicDe novo--Trost2022 G
NCAM2     4-0037-003chr21:
22755846-22755846
GTintronicDe novo--Trost2022 G
NCAM2     4-0062-003chr21:
22743998-22743999
TCGTintronicDe novo--Trost2022 G
NCAM2     1-1129-003chr21:
22735262-22735262
ATintronicDe novo--Trost2022 G
NCAM2     3-0456-000chr21:
22962463-22962463
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NCAM2     MSSNG00358-004chr21:
22721964-22721964
GTintronicDe novo--Trost2022 G
NCAM2     AU2310301chr21:
22916185-22916185
TGintergenicDe novo--Trost2022 G
NCAM2     1030chr21:
22908862-22908862
GAintronicDe novo--Trost2022 G
NCAM2     REACH000428chr21:
22860253-22860253
GCintronicDe novo--Trost2022 G
NCAM2     2-0214-003chr21:
22852769-22852774
GAATGATGAGTintronicDe novo--Trost2022 G
NCAM2     7-0254-004chr21:
22785193-22785193
CTintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0469-003chr21:
22852769-22852774
GAATGATGAGTintronicDe novo--Trost2022 G
NCAM2     REACH000668chr21:
22824302-22824302
GTintronicDe novo--Trost2022 G
NCAM2     7-0371-004chr21:
22822603-22822603
TCintronicDe novo--Trost2022 G
NCAM2     2-1185-003chr21:
22873732-22873732
GAintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0107-003chr21:
22948297-22948297
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
NCAM2     2-1509-003chr21:
22438731-22438736
CATATACATAintronicDe novo--Yuen2017 G
NCAM2     1-0834-003chr21:
22372464-22372464
CAintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     12857.p1chr21:
22580670-22580670
ATintronicDe novo--Werling2018 G
NCAM2     2-1509-003chr21:
22879868-22879868
ACintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     AU039305chr21:
22845634-22845634
ATintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0566-003chr21:
22641376-22641376
ACintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     2-0102-003chr21:
22401761-22401761
CCTAintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     AU1909304chr21:
22534543-22534543
CGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     AU3712301chr21:
22439952-22439952
CGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     2-1460-003chr21:
22562118-22562119
CTCintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     1-0162-004chr21:
22577094-22577094
AGintronicDe novo--Yuen2017 G
NCAM2     AU3918301chr21:
22876533-22876533
GTintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     2-1475-003chr21:
23070283-23070283
GAintergenicDe novo--Yuen2017 G
NCAM2     2-1475-003chr21:
22579169-22579169
GTintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     3-0456-000Bchr21:
22962463-22962463
AGintergenicDe novo--Yuen2017 G
NCAM2     1-0010-003chr21:
22530053-22530053
AGintronicDe novo--Trost2022 G
Yuen2017 G
NCAM2     2-1617-003chr21:
22905859-22905859
TCintronicDe novo--Trost2022 G
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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