Variant Results

or

Results for "PEX5L"

Variant Events: 23

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

1-0067-005

chr3:
179896069-179896072

AATG

A

intergenic

De novo

-

Yuen2017 G

PEX5L

1-0141-003

chr3:
179751118-179751123

CTAAAA

C

intronic

De novo

-

Yuen2017 G

PEX5L

2-0145-003

chr3:
179961953-179961953

G

A

intergenic

De novo

-

Yuen2017 G

PEX5L

2-1154-003

chr3:
179860555-179860556

CT

C

intergenic

De novo

-

Yuen2016 G

PEX5L

1-0493-003

chr3:
179594747-179594747

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PEX5L

13543.p1

chr3:
179652041-179652041

T

G

intronic

De novo

-

Turner2016 G

PEX5L

13649.p1

chr3:
180027038-180027038

C

T

intergenic

De novo

-

Turner2016 G

PEX5L

2-1339-003

chr3:
179654804-179654804

A

T

intronic

De novo

-

Yuen2017 G

PEX5L

AU3154301

chr3:
179712501-179712501

G

C

intronic

De novo

-

Yuen2017 G

PEX5L

7-0104-003

chr3:
179646550-179646550

G

A

intronic

De novo

-

Yuen2017 G

PEX5L

2-0713-003

chr3:
179699164-179699164

A

C

intronic

De novo

-

Yuen2017 G

PEX5L

AU3586303

chr3:
180060933-180060935

CCA

C

intergenic

De novo

-

Yuen2017 G

PEX5L

2-1632-003

chr3:
179578763-179578763

T

C

intronic

De novo

-

Yuen2017 G

PEX5L

1-0067-004

chr3:
179896069-179896072

AATG

A

intergenic

De novo

-

Yuen2017 G

PEX5L

1-0126-003

chr3:
180039209-180039210

AC

A

intergenic

De novo

-

Yuen2017 G

PEX5L

SSC06970

chr3:
179605524-179605524

C

T

exonic

De novo

nonsynonymous SNV

NM_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

36.0

8.237E-6

Fu2022 E
Lim2017 E

PEX5L

AU1308303

chr3:
179541789-179541789

T

A

intronic

De novo

-

Yuen2017 G

PEX5L

13211.p1

chr3:
179605524-179605524

C

T

exonic

De novo

nonsynonymous SNV

NM_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

36.0

8.237E-6

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G

PEX5L

SP0017302

chr3:
179525495-179525495

A

G

exonic

De novo

nonsynonymous SNV

NM_001256753
NM_001256751
NM_001256752
NM_001256755
NM_001256756
NM_001256750
NM_001256754
NM_016559

c.T1466C
c.T1571C
c.T1538C
c.T1319C
c.T1067C
c.T1637C
c.T1514C
c.T1643C

p.L489P
p.L524P
p.L513P
p.L440P
p.L356P
p.L546P
p.L505P
p.L548P

25.2

8.239E-6

Antaki2022 GE
Fu2022 E

PEX5L

AU3874301

chr3:
179827641-179827641

C

T

intergenic

De novo

-

Yuen2017 G

PEX5L

1-0219-003

chr3:
179665065-179665065

T

C

intronic

De novo

-

Yuen2017 G

PEX5L

1-0219-003

chr3:
179600854-179600854

T

TA

intronic

De novo

-

Yuen2017 G

PEX5L

3-0080-000

chr3:
179931740-179931740

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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