or
or
Exact

Results for "PCNX2"

Variant Events: 19

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
PCNX2     2-0143-004chr1:
233411201-233411201
GAintronicDe novo--Yuen2017 G
PCNX2     041-07-107684chr1:
233397769-233397769
AGintronicDe novo--Satterstrom2020 E
PCNX2     1-0265-004chr1:
233333249-233333249
GAintronicDe novo--Yuen2017 G
PCNX2     2-1205-003chr1:
233314776-233314776
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PCNX2     AU063004chr1:
233348050-233348050
TCintronicDe novo--Yuen2017 G
PCNX2     AU2427303chr1:
233392009-233392009
TAintronicDe novo--Yuen2017 G
PCNX2     iHART3261chr1:
233394002-233394002
CCAexonicPaternalframeshift insertionNM_014801c.1605dupTp.G536fs--Ruzzo2019 G
PCNX2     2-1143-003chr1:
233138155-233138155
GTintronicDe novo--Yuen2017 G
PCNX2     2-0285-004chr1:
233280696-233280696
TTGintronicDe novo--Yuen2017 G
PCNX2     1-0338-003chr1:
233259477-233259477
TGintronicDe novo--Yuen2017 G
PCNX2     AU074403chr1:
233140037-233140037
CTintronicDe novo--Yuen2017 G
PCNX2     1-0265-003chr1:
233333249-233333249
GAintronicDe novo--Yuen2017 G
PCNX2     7-0161-003chr1:
233160952-233160952
GAexonicDe novosynonymous SNVNM_014801c.C4545Tp.N1515N-5.795E-5Yuen2017 G
PCNX2     AU057404chr1:
233240330-233240330
TCintronicDe novo--Yuen2017 G
PCNX2     2-0102-004chr1:
233362984-233362984
GAexonicDe novononsynonymous SNVNM_014801c.C2492Tp.A831V32.0-Yuen2015 G
Yuen2017 G
PCNX2     13604.p1chr1:
233398920-233398920
GAintronicDe novo-0.001Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
PCNX2     1-0481-003chr1:
233131501-233131501
AGintronicDe novo--Yuen2017 G
PCNX2     1-0139-005chr1:
233145990-233145990
CTintronicDe novo--Yuen2017 G
PCNX2     08C75652chr1:
233314776-233314776
CTintronicDe novo--Satterstrom2020 E
Source Variant Information

, -

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
More