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Results for "PEX5L"

Variant Events: 22

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
PEX5L     1-0067-005chr3:
179896069-179896072
AATGAintergenicDe novo--Yuen2017 G
PEX5L     1-0141-003chr3:
179751118-179751123
CTAAAACintronicDe novo--Yuen2017 G
PEX5L     2-0145-003chr3:
179961953-179961953
GAintergenicDe novo--Yuen2017 G
PEX5L     2-1154-003chr3:
179860555-179860556
CTCintergenicDe novo--Yuen2016 G
PEX5L     1-0493-003chr3:
179594747-179594747
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PEX5L     13543.p1chr3:
179652041-179652041
TGintronicDe novo--Turner2016 G
PEX5L     13649.p1chr3:
180027038-180027038
CTintergenicDe novo--Turner2016 G
PEX5L     2-1339-003chr3:
179654804-179654804
ATintronicDe novo--Yuen2017 G
PEX5L     AU3154301chr3:
179712501-179712501
GCintronicDe novo--Yuen2017 G
PEX5L     7-0104-003chr3:
179646550-179646550
GAintronicDe novo--Yuen2017 G
PEX5L     2-0713-003chr3:
179699164-179699164
ACintronicDe novo--Yuen2017 G
PEX5L     AU3586303chr3:
180060933-180060935
CCACintergenicDe novo--Yuen2017 G
PEX5L     2-1632-003chr3:
179578763-179578763
TCintronicDe novo--Yuen2017 G
PEX5L     1-0067-004chr3:
179896069-179896072
AATGAintergenicDe novo--Yuen2017 G
PEX5L     1-0126-003chr3:
180039209-180039210
ACAintergenicDe novo--Yuen2017 G
PEX5L     SSC06970chr3:
179605524-179605524
CTexonicDe novononsynonymous SNVNM_001256753
NM_001256751
NM_001256752
NM_001256750
NM_001256754
NM_001256755
NM_016559
c.G70A
c.G175A
c.G142A
c.G241A
c.G118A
c.G118A
c.G247A
p.D24N
p.D59N
p.D48N
p.D81N
p.D40N
p.D40N
p.D83N
36.08.237E-6Lim2017 E
PEX5L     AU1308303chr3:
179541789-179541789
TAintronicDe novo--Yuen2017 G
PEX5L     13211.p1chr3:
179605524-179605524
CTexonicDe novononsynonymous SNVNM_001256753
NM_001256751
NM_001256752
NM_001256750
NM_001256754
NM_001256755
NM_016559
c.G70A
c.G175A
c.G142A
c.G241A
c.G118A
c.G118A
c.G247A
p.D24N
p.D59N
p.D48N
p.D81N
p.D40N
p.D40N
p.D83N
36.08.237E-6Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
PEX5L     AU3874301chr3:
179827641-179827641
CTintergenicDe novo--Yuen2017 G
PEX5L     1-0219-003chr3:
179665065-179665065
TCintronicDe novo--Yuen2017 G
PEX5L     1-0219-003chr3:
179600854-179600854
TTAintronicDe novo--Yuen2017 G
PEX5L     3-0080-000chr3:
179931740-179931740
CGintergenicDe novo--Yuen2016 G
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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