Variant Results

or

Results for "PALLD"

Variant Events: 74

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

2-0057-003

chr4:
169902723-169902723

T

C

intergenic

De novo

-

Yuen2017 G

PALLD

A13

chr4:
169543126-169543126

C

T

intronic

De novo

-

Wu2018 G

PALLD

1-0104-003

chr4:
169555768-169555768

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

SP0052138

chr4:
169846336-169846336

T

C

intronic

De novo

-

Fu2022 E

PALLD

SP0081985

chr4:
169602461-169602461

A

T

intronic

De novo

-

Fu2022 E

PALLD

2-1409-003

chr4:
169744232-169744232

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PALLD

AU4327303

chr4:
169684467-169684467

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

2-1374-003

chr4:
169562220-169562220

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

1-0046-003

chr4:
169742107-169742107

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PALLD

1-0936-003

chr4:
169793409-169793409

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

AU011704

chr4:
169454586-169454586

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

AU038204

chr4:
169714361-169714369

CATATATAT

CATATAT

intronic

De novo

-

Yuen2017 G

PALLD

AU4122301

chr4:
169421488-169421488

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

2-1425-003

chr4:
169588631-169588631

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

1-0150-003

chr4:
169896182-169896182

T

C

intergenic

De novo

-

Yuen2017 G

PALLD

1-0043-003

chr4:
169659592-169659592

A

AAACTCTTTTTTTTTTTTTTTTTTTTGT

intronic

De novo

-

Yuen2017 G

PALLD

1-0973-003

chr4:
169464122-169464122

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

AU031203

chr4:
169690383-169690383

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

2-1206-003

chr4:
169613449-169613449

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PALLD

iHART3297

chr4:
169604205-169604207

CAG

C

exonic

Paternal

frameshift deletion

NM_001166109
NM_001166108
NM_016081

c.66_67del
c.1212_1213del
c.1212_1213del

p.T22fs
p.T404fs
p.T404fs

-

Ruzzo2019 G

PALLD

DEASD_4039_001

chr4:
169630415-169630415

C

G

intronic

De novo

-

Fu2022 E

PALLD

7-0160-003

chr4:
169678989-169678989

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

AU2381302

chr4:
169854084-169854084

A

G

intergenic

De novo

-

Yuen2017 G

PALLD

4-0073-003

chr4:
169421513-169421514

GT

TGCTTCCTC

intronic

De novo

-

Trost2022 G

PALLD

AU4103301

chr4:
169552734-169552734

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

AU075803

chr4:
169900022-169900022

T

C

intergenic

De novo

-

Yuen2017 G

PALLD

AU4234303

chr4:
169604205-169604207

CAG

C

exonic

Paternal

frameshift deletion

NM_001166109
NM_001166108
NM_016081

c.66_67del
c.1212_1213del
c.1212_1213del

p.T22fs
p.T404fs
p.T404fs

-

Cirnigliaro2023 G

PALLD

MSSNG00039-003

chr4:
169467298-169467298

C

T

intronic

De novo

-

Trost2022 G

PALLD

3-0270-000

chr4:
169473079-169473079

G

A

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00357-004

chr4:
169435628-169435628

T

TA

intronic

De novo

-

Trost2022 G

PALLD

1-0292-003

chr4:
169604184-169604184

T

C

exonic

De novo

nonsynonymous SNV

NM_001166109
NM_001166108
NM_016081

c.T44C
c.T1190C
c.T1190C

p.I15T
p.I397T
p.I397T

19.51

-

Yuen2015 G

PALLD

7-0387-003

chr4:
169459579-169459579

C

T

intronic

De novo

-

Trost2022 G

PALLD

4-0073-003

chr4:
169421530-169421530

T

TGCC

intronic

De novo

-

Trost2022 G

PALLD

4-0073-003

chr4:
169421538-169421541

AGGG

TCTC

intronic

De novo

-

Trost2022 G

PALLD

4-0073-003

chr4:
169421522-169421522

G

GC

intronic

De novo

-

Trost2022 G

PALLD

1-0534-003

chr4:
169608337-169608337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

4-0073-003

chr4:
169421525-169421525

T

TTTG

intronic

De novo

-

Trost2022 G

PALLD

7-0452-003

chr4:
169564690-169564690

C

T

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00409-003

chr4:
169592529-169592529

G

A

intronic

De novo

-

Trost2022 G

PALLD

1-0559-005

chr4:
169865709-169865709

G

A

intergenic

De novo

-

Yuen2017 G

PALLD

5-0018-003

chr4:
169773119-169773119

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

7-0405-004

chr4:
169547470-169547470

G

A

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00004-004

chr4:
169562679-169562679

A

G

intronic

De novo

-

Trost2022 G

PALLD

AU2109301

chr4:
169427033-169427033

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

MSSNG00027-003

chr4:
169518217-169518221

TGACA

T

intronic

De novo

-

Trost2022 G

PALLD

3-0607-000

chr4:
169538350-169538350

C

G

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00437-003

chr4:
169499900-169499900

G

T

intronic

De novo

-

Trost2022 G

PALLD

13171.p1

chr4:
169424222-169424222

G

A

intronic

De novo

-

Turner2016 G

PALLD

1-0841-003

chr4:
169822934-169822934

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

7-0105-003

chr4:
169517694-169517694

G

T

intronic

De novo

-

Trost2022 G

PALLD

3-0284-000

chr4:
169659576-169659576

T

TCCTTCTTAAAC

intronic

De novo

-

Trost2022 G

PALLD

AU2224301

chr4:
169667624-169667624

A

G

intronic

De novo

-

Trost2022 G

PALLD

2-1287-003

chr4:
169614441-169614443

CTT

TTC

intronic

De novo

-

Trost2022 G

PALLD

5-5077-003

chr4:
169626225-169626225

A

T

intronic

De novo

-

Trost2022 G

PALLD

AU4485302

chr4:
169683297-169683297

G

A

intronic

De novo

-

Yuen2017 G

PALLD

2-1287-003

chr4:
169614437-169614437

T

C

intronic

De novo

-

Trost2022 G

PALLD

2-1362-004

chr4:
169614441-169614443

CTT

TTC

intronic

De novo

-

Trost2022 G

PALLD

SP0085641

chr4:
169611767-169611767

C

G

exonic

De novo

nonsynonymous SNV

NM_001166109
NM_001166108
NM_016081

c.C203G
c.C1349G
c.C1349G

p.T68R
p.T450R
p.T450R

7.64

-

Trost2022 G

PALLD

1-0007-003

chr4:
169704077-169704079

CAA

CAAA

intronic

De novo

-

Yuen2017 G

PALLD

2-1362-004

chr4:
169614437-169614437

T

C

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00373-003

chr4:
169792768-169792768

A

G

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00389-003

chr4:
169807460-169807460

T

C

intronic

De novo

-

Trost2022 G

PALLD

1-0051-004

chr4:
169756815-169756818

TAGA

GGCCGGGCGCGG

intronic

De novo

-

Trost2022 G

PALLD

2-1505-004

chr4:
169756815-169756818

TAGA

GGCCGGGCGCGG

intronic

De novo

-

Trost2022 G

PALLD

MT_181.3

chr4:
169747438-169747438

T

C

intronic

De novo

-

Trost2022 G

PALLD

1-0025-006

chr4:
169756793-169756798

GAGGAT

AAAAAAAA

intronic

De novo

-

Trost2022 G

PALLD

7-0456-003

chr4:
169669732-169669732

C

A

intronic

De novo

-

Trost2022 G

PALLD

MSSNG00171-003

chr4:
169720302-169720302

A

C

intronic

De novo

-

Trost2022 G

PALLD

7-0123-003

chr4:
169859755-169859755

G

A

intergenic

De novo

-

Yuen2017 G

PALLD

74-0117

chr4:
169454586-169454586

T

C

intronic

De novo

-

Michaelson2012 G

PALLD

4-0062-003

chr4:
169844888-169844888

T

A

intronic

De novo

-

Trost2022 G

PALLD

3-0161-000

chr4:
169837657-169837657

A

G

intronic

De novo

-

Trost2022 G

PALLD

AU024105

chr4:
169616231-169616231

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PALLD

REACH000653

chr4:
169840916-169840916

G

A

intronic

De novo

-

Trost2022 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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