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Results for "PATJ"

Variant Events: 29

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
PATJ     AU3053302chr1:
62378948-62378948
CGintronicDe novo--Yuen2017 G
PATJ     2-1154-003chr1:
62658407-62658407
TGintergenicDe novo--Yuen2017 G
PATJ     AU0636303chr1:
62325251-62325251
TCintronicDe novo--Yuen2017 G
PATJ     1-0219-003chr1:
62291136-62291136
AGintronicDe novo--Yuen2017 G
PATJ     1-0458-003chr1:
62624277-62624277
CAintronicDe novo--Yuen2017 G
PATJ     1-0144-004chr1:
62655471-62655471
CTintergenicDe novo--Yuen2017 G
PATJ     1-0079-008chr1:
62535179-62535179
GAintronicDe novo--Yuen2017 G
PATJ     Kenny2014:1chr1:
62321741-62321742
TCTexonicUnknownframeshift deletionNM_176877c.2153delCp.S718fs--Kenny2014 T
PATJ     1-0007-003chr1:
62604323-62604323
CTintronicDe novo--Yuen2017 G
PATJ     AU2089302chr1:
62585855-62585855
GAintronicDe novo--Yuen2017 G
PATJ     PN400341chr1:
62574145-62574145
GCexonicUnknownnonsynonymous SNVNM_176877c.G4414Cp.A1472P29.92.498E-5Leblond2019 E
PATJ     AU2569301chr1:
62579917-62579917
CTexonicDe novostopgainNM_176877c.C4654Tp.R1552X44.05.012E-5Yuen2017 G
PATJ     11402.p1chr1:
62374072-62374072
CTexonicMosaicnonsynonymous SNVNM_176877c.C3410Tp.S1137L19.79-Dou2017 E
PATJ     5-0055-003chr1:
62228363-62228363
GTintronicDe novo--Yuen2017 G
PATJ     7-0141-003chr1:
62588653-62588653
TGintronicDe novo--Yuen2017 G
PATJ     AU3786301chr1:
62427926-62427934
ATGTCTTGTATGTintronicDe novo--Yuen2017 G
PATJ     AU003403chr1:
62311337-62311337
AGintronicDe novo--Yuen2017 G
PATJ     1-0551-004chr1:
62561747-62561747
AGintronicDe novo--Yuen2017 G
PATJ     1-0197-004chr1:
62657831-62657831
TCintergenicDe novo--Yuen2017 G
PATJ     2-1168-003chr1:
62445134-62445134
GAintronicDe novo--Yuen2017 G
PATJ     Cukier2014:17122chr1:
62582847-62582847
CGexonicUnknownnonsynonymous SNVNM_176877c.C4847Gp.A1616G18.620.013Cukier2014 E
PATJ     1-0261-004chr1:
62596547-62596547
CTintronicDe novo--Yuen2017 G
PATJ     1-0169-003chr1:
62499320-62499320
ACintronicDe novo--Yuen2017 G
PATJ     iHART1751chr1:
62614060-62614064
AGAGTAexonicPaternalframeshift deletionNM_176877c.5377_5378delp.E1793fs-4.969E-5Ruzzo2019 G
PATJ     11490.p1chr1:
62327208-62327208
GTintronicDe novo--Krumm2015 E
PATJ     AU4327303chr1:
62656499-62656503
CCTCTCCTintergenicDe novo--Yuen2017 G
PATJ     iHART1912chr1:
62366953-62366953
GAsplicingPaternalsplicing23.08.667E-6Ruzzo2019 G
PATJ     iHART1754chr1:
62614060-62614064
AGAGTAexonicPaternalframeshift deletionNM_176877c.5377_5378delp.E1793fs-4.969E-5Ruzzo2019 G
PATJ     iHART2411chr1:
62241004-62241004
CTexonicMaternalstopgainNM_176877c.C847Tp.R283X39.08.27E-6Ruzzo2019 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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