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Results for "NCKAP5"

Variant Events: 40

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
NCKAP5     2-0273-003chr2:
134869039-134869039
GAintergenicDe novo--Yuen2017 G
NCKAP5     AU008505chr2:
134490832-134490832
CAintergenicDe novo--Yuen2017 G
NCKAP5     AU3698301chr2:
134557721-134557721
TCintergenicDe novo--Yuen2017 G
NCKAP5     1-0051-005chr2:
134399740-134399740
CGintergenicDe novo--Yuen2017 G
NCKAP5     13629.p1chr2:
134259497-134259497
TAintronicDe novo--Werling2018 G
NCKAP5     2-1506-003chr2:
134636527-134636527
CTintergenicDe novo--Yuen2017 G
NCKAP5     1-0466-003chr2:
134298980-134298980
GAintronicDe novo--Yuen2017 G
NCKAP5     2-0122-003chr2:
133505138-133505138
GGAGGCCAAAintronicDe novo--Yuen2017 G
NCKAP5     7-0166-003chr2:
134880693-134880693
CTintergenicDe novo--Yuen2017 G
NCKAP5     5-0014-003chr2:
134735112-134735112
GAintergenicDe novo--Yuen2017 G
NCKAP5     2-1169-004chr2:
133505134-133505134
TAintronicDe novo--Yuen2017 G
NCKAP5     2-0057-004chr2:
134432559-134432559
ATintergenicDe novo--Yuen2017 G
NCKAP5     AU4129303chr2:
134570438-134570438
ACintergenicDe novo--Yuen2017 G
NCKAP5     2-1215-003chr2:
134395207-134395211
GGACAGintergenicDe novo--Yuen2017 G
NCKAP5     5-0030-003chr2:
133450029-133450029
AATintronicDe novo--Yuen2017 G
NCKAP5     AU3721301chr2:
133429448-133429448
ACUTR3De novo--Yuen2017 G
NCKAP5     2-1317-003chr2:
134617710-134617710
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
NCKAP5     AU3913301chr2:
134353964-134353964
CAintergenicDe novo--Yuen2017 G
NCKAP5     1-0359-003chr2:
134778414-134778414
TCintergenicDe novo--Yuen2017 G
NCKAP5     13298.p1chr2:
134603343-134603343
ATintergenicDe novo--Turner2016 G
NCKAP5     7-0067-003chr2:
134337551-134337551
AGintergenicDe novo--Yuen2017 G
NCKAP5     AU1223303chr2:
134819049-134819049
AGintergenicDe novo--Yuen2017 G
NCKAP5     1-0534-006chr2:
134317757-134317757
ACintronicDe novo--Yuen2017 G
NCKAP5     2-1459-003chr2:
134660108-134660108
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
NCKAP5     AU015903chr2:
133549327-133549327
CTintronicDe novo--Yuen2017 G
NCKAP5     3-0209-000chr2:
133535933-133535933
TCintronicDe novo--Yuen2017 G
NCKAP5     1-0971-003chr2:
134409515-134409515
GAintergenicDe novo--Yuen2017 G
NCKAP5     2-1741-003chr2:
133510831-133510831
GAintronicDe novo--Yuen2017 G
NCKAP5     AU4462302chr2:
134684637-134684644
ATTTTTTTATTTTTTintergenicDe novo--Yuen2017 G
NCKAP5     2-1562-004chr2:
134522663-134522663
ACintergenicDe novo--Yuen2017 G
NCKAP5     AU4263304chr2:
134735826-134735826
GCintergenicDe novo--Yuen2017 G
NCKAP5     1-0332-003chr2:
134826457-134826457
GGAintergenicDe novo--Yuen2017 G
NCKAP5     2-0045-003chr2:
134553215-134553215
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NCKAP5     AU0540301chr2:
134554645-134554645
AGintergenicDe novo--Yuen2017 G
NCKAP5     1-0490-003chr2:
134463911-134463911
GTintergenicDe novo--Yuen2017 G
NCKAP5     AU2248301chr2:
134583929-134583929
CTintergenicDe novo--Yuen2017 G
NCKAP5     AU043804chr2:
133489092-133489092
TAintronicDe novo--Yuen2017 G
NCKAP5     AU4145301chr2:
134808034-134808034
TCintergenicDe novo--Yuen2017 G
NCKAP5     1-0606-003chr2:
134315876-134315890
AGAGGAGGAGGAGGAAGAGGAGGAGGAintronicDe novo--Yuen2017 G
NCKAP5     2-0223-003chr2:
133483189-133483189
CAintronicDe 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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