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Results for "PXDN"

Variant Events: 14

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
PXDN     A18chr2:
1687482-1687482
CTexonicDe novononsynonymous SNVNM_012293c.G506Ap.R169Q22.08.778E-5Wu2018 G
PXDN     SSC06985chr2:
1658190-1658190
CTexonicDe novononsynonymous SNVNM_012293c.G1928Ap.R643Q19.98-Lim2017 E
PXDN     Li2017:17618chr2:
1657483-1657483
CAexonicUnknownnonsynonymous SNVNM_012293c.G2021Tp.R674L19.23-Li2017 T
PXDN     Li2017:17640chr2:
1691444-1691444
CAexonicUnknownnonsynonymous SNVNM_012293c.G376Tp.D126Y32.0-Li2017 T
PXDN     Li2017:15061chr2:
1653217-1653217
GAexonicUnknownnonsynonymous SNVNM_012293c.C2335Tp.R779W15.232.486E-5Li2017 T
PXDN     iHART1374chr2:
1664811-1664811
TGsplicingMaternalsplicing13.98-Ruzzo2019 G
PXDN     iHART1375chr2:
1664811-1664811
TGsplicingMaternalsplicing13.98-Ruzzo2019 G
PXDN     1-0652-003chr2:
1700857-1700857
CTintronicDe novo--Yuen2017 G
PXDN     13187.p1chr2:
1658190-1658190
CTexonicDe novononsynonymous SNVNM_012293c.G1928Ap.R643Q19.98-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PXDN     5-0050-004chr2:
1755500-1755500
CCTTGTTAGAGintergenicDe novo--Yuen2017 G
PXDN     1-0346-004chr2:
1789085-1789085
CTintergenicDe novo--Yuen2017 G
PXDN     2-1166-003chr2:
1769477-1769477
CAintergenicDe novo--Yuen2017 G
PXDN     AU072905chr2:
1785462-1785462
CTintergenicDe novo--Yuen2017 G
PXDN     08C77921chr2:
1677381-1677381
GAintronicDe novo--Satterstrom2020 E
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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