Variant Results

or

Results for "PXK"

Variant Events: 16

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

PXK

1-1004-003

chr3:
58364459-58364459

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXK

3-0307-000

chr3:
58408523-58408523

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PXK

3-0442-000

chr3:
58354679-58354679

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PXK

REACH000252

chr3:
58319149-58319149

G

T

intronic

De novo

-

Trost2022 G

PXK

MSSNG00421-005

chr3:
58321640-58321640

T

A

intronic

De novo

-

Trost2022 G

PXK

SP0231246

chr3:
58376341-58376341

C

T

exonic

De novo

stopgain

NM_001289101
NM_001289096
NM_001289100
NM_001289095
NM_001289098
NM_001289099
NM_017771

c.C10T
c.C322T
c.C322T
c.C370T
c.C421T
c.C172T
c.C421T

p.R4X
p.R108X
p.R108X
p.R124X
p.R141X
p.R58X
p.R141X

37.0

-

Trost2022 G

PXK

MSSNG00235-003

chr3:
58391338-58391338

A

G

intronic

De novo

-

Trost2022 G

PXK

1-0706-003

chr3:
58359577-58359577

C

A

intronic

De novo

-

Trost2022 G

PXK

15210-25677

chr3:
58398647-58398657

ACCTCTCACGT

A

exonic

frameshift deletion

NM_001289101
NM_001289096
NM_001289100
NM_001289095
NM_001289098
NM_001289099
NM_017771

c.1075_1084del
c.1387_1396del
c.1387_1396del
c.1432_1441del
c.1486_1495del
c.1237_1246del
c.1486_1495del

p.P359fs
p.P463fs
p.P463fs
p.P478fs
p.P496fs
p.P413fs
p.P496fs

-

Callaghan2019 G

PXK

5-5146-003

chr3:
58374278-58374278

C

T

intronic

De novo

-

Trost2022 G

PXK

2-1287-003

chr3:
58347089-58347089

G

A

intronic

De novo

-

Trost2022 G

PXK

MSSNG00245-003

chr3:
58356463-58356463

C

A

intronic

De novo

-

Trost2022 G

PXK

MSSNG00049-003

chr3:
58334006-58334006

A

G

intronic

De novo

-

Trost2022 G

PXK

MSSNG00421-005

chr3:
58342486-58342486

A

G

intronic

De novo

-

Trost2022 G

PXK

SP0064457

chr3:
58406255-58406255

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PXK

PN400352

chr3:
58409192-58409193

CT

C

exonic

Unknown

stopgain

NM_001289095

c.1480delT

p.L494X

-

Leblond2019 E

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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