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Results for "NCAPD3"

Variant Events: 9

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
NCAPD3     A13chr11:
134053340-134053340
GAintronicDe novo--Wu2018 G
NCAPD3     AU3858302chr11:
134052300-134052300
CGintronicDe novo--Yuen2017 G
NCAPD3     2-1362-004chr11:
134032002-134032002
GCintronicDe novo--Yuen2017 G
NCAPD3     AU1274301chr11:
134047092-134047092
CGintronicDe novo--Satterstrom2020 E
NCAPD3     AU4315302chr11:
134094399-134094399
TAUTR5De novo--Yuen2017 G
NCAPD3     7-0249-003chr11:
134023587-134023587
CTintronicDe novo--Yuen2017 G
NCAPD3     AU3451301chr11:
134033993-134033993
CTintronicDe novo--Yuen2017 G
NCAPD3     iHART2778chr11:
134047142-134047142
GGGAexonicMaternalframeshift insertionNM_015261c.2992_2993insTCp.T998fs-8.238E-6Ruzzo2019 G
NCAPD3     1-0479-006chr11:
134029409-134029409
CTintronicDe 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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