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Results for "PALLD"

Variant Events: 34

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
PALLD     1-0043-003chr4:
169659592-169659592
AAAACTCTTTTTTTTTTTTTTTTTTTTGTintronicDe novo--Yuen2017 G
PALLD     1-0973-003chr4:
169464122-169464122
GAintronicDe novo--Yuen2017 G
PALLD     AU031203chr4:
169690383-169690383
TGintronicDe novo--Yuen2017 G
PALLD     2-0057-003chr4:
169902723-169902723
TCintergenicDe novo--Yuen2017 G
PALLD     2-1206-003chr4:
169613449-169613449
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PALLD     iHART3297chr4:
169604205-169604207
CAGCexonicPaternalframeshift deletionNM_001166109
NM_001166108
NM_016081
c.66_67del
c.1212_1213del
c.1212_1213del
p.T22fs
p.T404fs
p.T404fs
--Ruzzo2019 G
PALLD     7-0160-003chr4:
169678989-169678989
GAintronicDe novo--Yuen2017 G
PALLD     A13chr4:
169543126-169543126
CTintronicDe novo--Wu2018 G
PALLD     AU2381302chr4:
169854084-169854084
AGintergenicDe novo--Yuen2017 G
PALLD     AU4103301chr4:
169552734-169552734
CTintronicDe novo--Yuen2017 G
PALLD     1-0104-003chr4:
169555768-169555768
CTintronicDe novo--Yuen2017 G
PALLD     AU075803chr4:
169900022-169900022
TCintergenicDe novo--Yuen2017 G
PALLD     1-0292-003chr4:
169604184-169604184
TCexonicDe novononsynonymous SNVNM_001166109
NM_001166108
NM_016081
c.T44C
c.T1190C
c.T1190C
p.I15T
p.I397T
p.I397T
19.51-Yuen2015 G
PALLD     2-1409-003chr4:
169744232-169744232
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PALLD     AU4327303chr4:
169684467-169684467
AGintronicDe novo--Yuen2017 G
PALLD     1-0534-003chr4:
169608337-169608337
AGintronicDe novo--Yuen2017 G
PALLD     2-1374-003chr4:
169562220-169562220
GAintronicDe novo--Yuen2017 G
PALLD     1-0046-003chr4:
169742107-169742107
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PALLD     1-0559-005chr4:
169865709-169865709
GAintergenicDe novo--Yuen2017 G
PALLD     5-0018-003chr4:
169773119-169773119
CTintronicDe novo--Yuen2017 G
PALLD     AU2109301chr4:
169427033-169427033
TCintronicDe novo--Yuen2017 G
PALLD     13171.p1chr4:
169424222-169424222
GAintronicDe novo--Turner2016 G
PALLD     1-0841-003chr4:
169822934-169822934
GAintronicDe novo--Yuen2017 G
PALLD     1-0936-003chr4:
169793409-169793409
CAintronicDe novo--Yuen2017 G
PALLD     AU4485302chr4:
169683297-169683297
GAintronicDe novo--Yuen2017 G
PALLD     1-0007-003chr4:
169704077-169704079
CAACAAAintronicDe novo--Yuen2017 G
PALLD     AU011704chr4:
169454586-169454586
TCintronicDe novo--Yuen2017 G
PALLD     AU038204chr4:
169714361-169714369
CATATATATCATATATintronicDe novo--Yuen2017 G
PALLD     AU4122301chr4:
169421488-169421488
AGintronicDe novo--Yuen2017 G
PALLD     2-1425-003chr4:
169588631-169588631
TGintronicDe novo--Yuen2017 G
PALLD     7-0123-003chr4:
169859755-169859755
GAintergenicDe novo--Yuen2017 G
PALLD     1-0150-003chr4:
169896182-169896182
TCintergenicDe novo--Yuen2017 G
PALLD     74-0117chr4:
169454586-169454586
TCintronicDe novo--Michaelson2012 G
PALLD     AU024105chr4:
169616231-169616231
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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