Variant Results

or

or

Results for "PATJ"

Variant Events: 33

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

AU3053302

chr1:
62378948-62378948

C

G

intronic

De novo

-

-

Yuen2017 G

PATJ

SP0044098

chr1:
62374032-62374032

T

G

intronic

De novo

-

-

Fu2022 E

PATJ

SP0034904

chr1:
62588733-62588733

A

G

intronic

De novo

-

-

Fu2022 E

PATJ

2-1154-003

chr1:
62658407-62658407

T

G

intergenic

De novo

-

-

Yuen2017 G

PATJ

AU0636303

chr1:
62325251-62325251

T

C

intronic

De novo

-

-

Yuen2017 G

PATJ

SP0078543

chr1:
62614103-62614103

C

A

intronic

De novo

-

-

Fu2022 E

PATJ

1-0219-003

chr1:
62291136-62291136

A

G

intronic

De novo

-

-

Yuen2017 G

PATJ

1-0458-003

chr1:
62624277-62624277

C

A

intronic

De novo

-

-

Yuen2017 G

PATJ

1-0144-004

chr1:
62655471-62655471

C

T

intergenic

De novo

-

-

Yuen2017 G

PATJ

1-0079-008

chr1:
62535179-62535179

G

A

intronic

De novo

-

-

Yuen2017 G

PATJ

Kenny2014:1

chr1:
62321741-62321742

TC

T

exonic

Unknown

frameshift deletion

NM_176877

c.2153delC

p.S718fs

-

-

Kenny2014 T

PATJ

1-0007-003

chr1:
62604323-62604323

C

T

intronic

De novo

-

-

Yuen2017 G

PATJ

5111007080051-C

chr1:
62232230-62232230

C

T

intronic

De novo

-

-

Fu2022 E

PATJ

AU2089302

chr1:
62585855-62585855

G

A

intronic

De novo

-

-

Yuen2017 G

PATJ

PN400341

chr1:
62574145-62574145

G

C

exonic

Unknown

nonsynonymous SNV

NM_176877

c.G4414C

p.A1472P

29.9

Leblond2019 E

PATJ

AU2569301

chr1:
62579917-62579917

C

T

exonic

De novo

stopgain

NM_176877

c.C4654T

p.R1552X

44.0

Yuen2017 G

PATJ

11402.p1

chr1:
62374072-62374072

C

T

exonic

Mosaic

nonsynonymous SNV

NM_176877

c.C3410T

p.S1137L

19.79

-

Dou2017 E

PATJ

5-0055-003

chr1:
62228363-62228363

G

T

intronic

De novo

-

-

Yuen2017 G

PATJ

7-0141-003

chr1:
62588653-62588653

T

G

intronic

De novo

-

-

Yuen2017 G

PATJ

AU3786301

chr1:
62427926-62427934

ATGTCTTGT

ATGT

intronic

De novo

-

-

Yuen2017 G

PATJ

AU003403

chr1:
62311337-62311337

A

G

intronic

De novo

-

-

Yuen2017 G

PATJ

1-0551-004

chr1:
62561747-62561747

A

G

intronic

De novo

-

-

Yuen2017 G

PATJ

1-0197-004

chr1:
62657831-62657831

T

C

intergenic

De novo

-

-

Yuen2017 G

PATJ

2-1168-003

chr1:
62445134-62445134

G

A

intronic

De novo

-

-

Yuen2017 G

PATJ

Cukier2014:17122

chr1:
62582847-62582847

C

G

exonic

Unknown

nonsynonymous SNV

NM_176877

c.C4847G

p.A1616G

18.62

Cukier2014 E

PATJ

1-0261-004

chr1:
62596547-62596547

C

T

intronic

De novo

-

-

Yuen2017 G

PATJ

1-0169-003

chr1:
62499320-62499320

A

C

intronic

De novo

-

-

Yuen2017 G

PATJ

iHART1751

chr1:
62614060-62614064

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-

Ruzzo2019 G

PATJ

11490.p1

chr1:
62327208-62327208

G

T

intronic

De novo

-

-

Krumm2015 E

PATJ

AU4327303

chr1:
62656499-62656503

CCTCT

CCT

intergenic

De novo

-

-

Yuen2017 G

PATJ

iHART1912

chr1:
62366953-62366953

G

A

splicing

Paternal

splicing

23.0

Ruzzo2019 G

PATJ

iHART1754

chr1:
62614060-62614064

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-

Ruzzo2019 G

PATJ

iHART2411

chr1:
62241004-62241004

C

T

exonic

Maternal

stopgain

NM_176877

c.C847T

p.R283X

39.0

Ruzzo2019 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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