Variant Results

or

Results for "PYGL"

Variant Events: 25

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

PYGL

14243.p1

chr14:
51378771-51378771

A

C

intronic

De novo

-

8.237E-6

Krumm2015 E
Satterstrom2020 E

PYGL

2-0198-003

chr14:
51437396-51437396

A

G

intergenic

De novo

-

Yuen2017 G

PYGL

SP0034226

chr14:
51390810-51390810

T

C

exonic

De novo

synonymous SNV

NM_001163940
NM_002863

c.A435G
c.A537G

p.E145E
p.E179E

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PYGL

SP0035464

chr14:
51383408-51383408

A

C

exonic

De novo

synonymous SNV

NM_001163940
NM_002863

c.T942G
c.T1044G

p.P314P
p.P348P

-

Fu2022 E

PYGL

SP0009381

chr14:
51382070-51382070

T

G

exonic

De novo

nonsynonymous SNV

NM_001163940
NM_002863

c.A1285C
c.A1387C

p.I429L
p.I463L

9.52

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PYGL

36050

chr14:
51378771-51378771

A

C

intronic

De novo

-

8.237E-6

Trost2022 G

PYGL

REACH000229

chr14:
51389985-51389985

C

A

intronic

De novo

-

Trost2022 G

PYGL

1-0522-003

chr14:
51439380-51439380

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PYGL

SP0251512

chr14:
51375579-51375579

G

C

exonic

De novo

nonsynonymous SNV

NM_001163940
NM_002863

c.C2170G
c.C2272G

p.L724V
p.L758V

16.28

-

Trost2022 G

PYGL

2-1335-003

chr14:
51391343-51391343

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PYGL

AU168A

chr14:
51410920-51410920

A

C

exonic

De novo

nonsynonymous SNV

NM_001163940
NM_002863

c.T202G
c.T202G

p.W68G
p.W68G

27.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PYGL

MSSNG00357-003

chr14:
51411190-51411190

C

T

UTR5

De novo

-

Trost2022 G

PYGL

REACH000288

chr14:
51399200-51399201

CT

C

intronic

De novo

-

Trost2022 G

PYGL

3-0713-000

chr14:
51402458-51402458

A

G

intronic

De novo

-

Trost2022 G

PYGL

1-0485-003

chr14:
51436479-51436479

C

G

intergenic

De novo

-

Yuen2017 G

PYGL

iHART2303

chr14:
51381418-51381418

C

A

splicing

Maternal

splicing

24.6

8.251E-6

Ruzzo2019 G

PYGL

AU3840302

chr14:
51387333-51387334

CA

C

exonic

Maternal

frameshift deletion

NM_001163940
NM_002863

c.678delT
c.780delT

p.V226fs
p.V260fs

-

Cirnigliaro2023 G

PYGL

iHART2305

chr14:
51381418-51381418

C

A

splicing

Maternal

splicing

24.6

8.251E-6

Ruzzo2019 G

PYGL

mAGRE4023

chr14:
51381418-51381418

C

A

splicing

Maternal

splicing

24.6

8.251E-6

Cirnigliaro2023 G

PYGL

mAGRE2305

chr14:
51381418-51381418

C

A

splicing

Maternal

splicing

24.6

8.251E-6

Cirnigliaro2023 G

PYGL

mAGRE2303

chr14:
51381418-51381418

C

A

splicing

Maternal

splicing

24.6

8.251E-6

Cirnigliaro2023 G

PYGL

mAGRE5940

chr14:
51379746-51379746

C

T

splicing

Maternal

splicing

24.2

3.303E-5

Cirnigliaro2023 G

PYGL

5-0106-003

chr14:
51397751-51397751

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PYGL

1-0674-004

chr14:
51377773-51377773

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PYGL

mAGRE6176

chr14:
51387333-51387334

CA

C

exonic

Maternal

frameshift deletion

NM_001163940
NM_002863

c.678delT
c.780delT

p.V226fs
p.V260fs

-

Cirnigliaro2023 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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