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Results for "PCNX1"

Variant Events: 27

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
PCNX1     2-1690-003chr14:
71496412-71496412
GAintronicDe novo--Yuen2017 G
PCNX1     DEASD_0396_001chr14:
71555004-71555004
TGintronicDe novo--Kosmicki2017 E
PCNX1     AU1933301chr14:
71441265-71441265
CAintronicDe novo--Yuen2017 G
PCNX1     AU4452302chr14:
71627884-71627884
TGintergenicDe novo--Yuen2017 G
PCNX1     13222.p1chr14:
71555929-71555929
AGexonicDe novononsynonymous SNVNM_001308160
NM_014982
c.A5126G
c.A5459G
p.Y1709C
p.Y1820C
24.72.485E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
PCNX1     2-1722-003chr14:
71481000-71481000
AGintronicDe novo--Yuen2017 G
PCNX1     2-1406-003chr14:
71736561-71736565
CTATTCTintergenicDe novo--Yuen2017 G
PCNX1     AU1848302chr14:
71555924-71555924
CAexonicDe novononsynonymous SNVNM_001308160
NM_014982
c.C5121A
c.C5454A
p.F1707L
p.F1818L
29.5-Yuen2017 G
PCNX1     AU3849302chr14:
71855338-71855338
GAintergenicDe novo--Yuen2017 G
PCNX1     AU011604chr14:
71632529-71632529
CTintergenicDe novo--Yuen2017 G
PCNX1     AU058103chr14:
71423424-71423424
TCintronicDe novo--Yuen2017 G
PCNX1     AU3506303chr14:
71747992-71747992
GTintergenicDe novo--Yuen2017 G
PCNX1     2-1315-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PCNX1     1-0912-003chr14:
71760144-71760144
CTintergenicDe novo--Yuen2017 G
PCNX1     2-0006-004chr14:
71451261-71451261
GAintronicDe novo--Yuen2017 G
PCNX1     2-1093-003chr14:
71631061-71631061
CTintergenicDe novo--Yuen2017 G
PCNX1     2-0285-004chr14:
71772905-71772905
TCintergenicDe novo--Yuen2017 G
PCNX1     AU4188302chr14:
71445807-71445807
AGintronicDe novo--Yuen2017 G
PCNX1     AU3702307chr14:
71404168-71404168
CTintronicDe novo--Yuen2017 G
PCNX1     2-1086-003chr14:
71769515-71769515
CAintergenicDe novo--Yuen2017 G
PCNX1     P1264chr14:
71555961-71555961
CTexonicDe novononsynonymous SNVNM_001308160
NM_014982
c.C5158T
c.C5491T
p.R1720C
p.R1831C
34.0-Hashimoto2016 E
PCNX1     1-0304-003chr14:
71494838-71494838
ATintronicDe novo--Yuen2016 G
PCNX1     1-0914-003chr14:
71648659-71648659
CTintergenicDe novo--Yuen2017 G
PCNX1     1-0632-003chr14:
71754209-71754209
ACintergenicDe novo--Yuen2017 G
PCNX1     AU2525302chr14:
71841265-71841265
CTintergenicDe novo--Yuen2017 G
PCNX1     1-0139-005chr14:
71563884-71563884
GTintronicDe novo--Yuen2017 G
PCNX1     2-1327-004chr14:
71451261-71451261
GGACAintronicDe 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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