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Results for "NXPE2"

Variant Events: 26

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
NXPE2     1-0104-004chr11:
114613832-114613832
TTGGCAintergenicDe novo--Yuen2017 G
NXPE2     AU012804chr11:
114934845-114934845
AGintergenicDe novo--Yuen2017 G
NXPE2     1-0439-003chr11:
114572207-114572207
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NXPE2     AU3692302chr11:
114917013-114917013
CAintergenicDe novo--Yuen2017 G
NXPE2     iHART2239chr11:
114576570-114576570
GGAexonicMaternalframeshift insertionNM_182495c.997dupAp.L332fs--Ruzzo2019 G
NXPE2     1-0436-003chr11:
114844712-114844712
AGintergenicDe novo--Yuen2016 G
NXPE2     2-1120-003chr11:
114614435-114614436
TATintergenicDe novo--Yuen2017 G
NXPE2     AU4433301chr11:
114671009-114671009
TAintergenicDe novo--Yuen2017 G
NXPE2     AU3907301chr11:
114564874-114564874
AGintronicDe novo--Yuen2017 G
NXPE2     1-0274-003chr11:
114682023-114682023
GAintergenicDe novo--Yuen2017 G
NXPE2     1-0300-004chr11:
114682023-114682023
GAintergenicDe novo--Yuen2017 G
NXPE2     2-1480-003chr11:
114738347-114738347
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NXPE2     AU4410302chr11:
114662913-114662913
ACintergenicDe novo--Yuen2017 G
NXPE2     A14chr11:
114941160-114941160
CTintergenicDe novo--Wu2018 G
NXPE2     AU4099301chr11:
114677330-114677330
GAintergenicDe novo--Yuen2017 G
NXPE2     AU3779302chr11:
114974334-114974334
ATintergenicDe novo--Yuen2017 G
NXPE2     AU3634301chr11:
114858732-114858732
GAintergenicDe novo--Yuen2017 G
NXPE2     AU1940304chr11:
114988526-114988526
TCintergenicDe novo--Yuen2017 G
NXPE2     AU3154302chr11:
114989313-114989315
ACCACintergenicDe novo--Yuen2017 G
NXPE2     2-0129-005chr11:
114696496-114696496
GCintergenicDe novo--Yuen2017 G
NXPE2     AU2711303chr11:
114780835-114780835
CGintergenicDe novo--Yuen2017 G
NXPE2     MT_69chr11:
114577559-114577559
GAexonicMaternalstopgainNM_182495c.G1587Ap.W529X36.07.0E-4Toma2013 E
NXPE2     7-0032-003chr11:
114980058-114980058
GAintergenicDe novo--Yuen2017 G
NXPE2     2-1174-006chr11:
114622576-114622576
GTintergenicDe novo--Yuen2017 G
NXPE2     AU2089301chr11:
114601737-114601737
GCintergenicDe novo--Yuen2017 G
NXPE2     1-0554-003chr11:
114960015-114960015
GTintergenicDe 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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