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Results for "PXDNL"

Variant Events: 30

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
PXDNL     1-0323-003chr8:
52628037-52628037
GAintronicDe novo--Yuen2017 G
PXDNL     13867.p1chr8:
52232506-52232506
CTexonicDe novononsynonymous SNVNM_144651c.G4337Ap.C1446Y13.15-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
PXDNL     2-1283-003chr8:
52343837-52343837
CTintronicDe novo--Yuen2017 G
PXDNL     11841.p1chr8:
52320634-52320634
GAexonicDe novosynonymous SNVNM_144651c.C3550Tp.L1184L--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
PXDNL     12204.p1chr8:
52567360-52567367
GACTGCATGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
PXDNL     AU2793303chr8:
52355353-52355353
CTintronicDe novo--Yuen2017 G
PXDNL     1-0354-006chr8:
52442723-52442723
TCintronicDe novo--Yuen2017 G
PXDNL     DEASD_0444_001chr8:
52359655-52359655
TCexonicDe novosynonymous SNVNM_144651c.A1434Gp.A478A--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PXDNL     2-1132-003chr8:
52520257-52520257
AGintronicDe novo--Yuen2017 G
PXDNL     AU064Achr8:
52366170-52366170
CTexonicDe novosynonymous SNVNM_144651c.G1158Ap.Q386Q--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PXDNL     2-0319-004chr8:
52609271-52609271
AACCintronicDe novo--Yuen2017 G
PXDNL     7-0082-003chr8:
52609308-52609308
CCACACAGGTintronicDe novo--Yuen2017 G
PXDNL     1-0541-003chr8:
52609237-52609237
AAGGintronicDe novo--Yuen2017 G
PXDNL     2-0057-003chr8:
52609237-52609237
AAGGintronicDe novo--Yuen2017 G
PXDNL     IGM1648671chr8:
52321486-52321486
ACexonicDe novononsynonymous SNVNM_144651c.T2698Gp.Y900D11.76-Satterstrom2020 E
PXDNL     AU1795301chr8:
52513256-52513258
CTTCintronicDe novo--Yuen2017 G
PXDNL     2-1283-004chr8:
52343837-52343837
CTintronicDe novo--Yuen2017 G
PXDNL     2-1442-003chr8:
52239817-52239817
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PXDNL     AU4234303chr8:
52247685-52247685
TCintronicDe novo--Yuen2017 G
PXDNL     236-11-114142chr8:
52567208-52567208
TCintronicDe novo--Satterstrom2020 E
PXDNL     2-1738-003chr8:
52531904-52531904
CTintronicDe novo--Yuen2017 G
PXDNL     AU3881301chr8:
52669808-52669808
TCintronicDe novo--Yuen2017 G
PXDNL     AU3862305chr8:
52575335-52575335
ATintronicDe novo--Yuen2017 G
PXDNL     1-0559-003chr8:
52609349-52609349
AAGGintronicDe novo--Yuen2017 G
PXDNL     1-0359-003chr8:
52720897-52720904
CTTCTTTTCTTintronicDe novo--Yuen2017 G
PXDNL     Cukier2014:37674chr8:
52284560-52284560
ATexonicUnknownstopgainNM_144651c.T3774Ap.C1258X40.00.0188Cukier2014 E
PXDNL     iHART2978chr8:
52321615-52321615
CCGexonicMaternalframeshift insertionNM_144651c.2568dupCp.A857fs--Ruzzo2019 G
PXDNL     1-0191-003chr8:
52503346-52503346
TCintronicDe novo--Yuen2017 G
PXDNL     1-0067-005chr8:
52490718-52490718
GGAAAGAAintronicDe novo--Yuen2017 G
PXDNL     1-0045-004chr8:
52280226-52280226
GAintronicDe 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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