Variant Results

or

or

Results for "PAPOLG"

Variant Events: 21

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

PAPOLG

SP0007972

chr2:
61021255-61021255

A

G

exonic

De novo

nonsynonymous SNV

NM_022894

c.A1918G

p.T640A

15.61

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PAPOLG

MSSNG00056-003

chr2:
61003776-61003776

T

G

intronic

De novo

-

-

Trost2022 G

PAPOLG

13630.p1

chr2:
60988862-60988863

AT

A

intronic

De novo

-

Krumm2015 E

PAPOLG

MSSNG00333-003

chr2:
61026118-61026118

T

C

UTR3

De novo

-

-

Trost2022 G

PAPOLG

1-0319-003

chr2:
60986301-60986301

C

T

intronic

De novo

-

-

Trost2022 G

PAPOLG

MT_151.4

chr2:
60993109-60993109

C

T

intronic

De novo

-

-

Trost2022 G

PAPOLG

iHART1807

chr2:
61021851-61021851

C

T

exonic

Paternal

stopgain

NM_022894

c.C1996T

p.R666X

40.0

Ruzzo2019 G

PAPOLG

SP0153818

chr2:
61009053-61009053

A

T

exonic

nonsynonymous SNV

NM_022894

c.A940T

p.I314L

35.0

-

Zhou2022 GE

PAPOLG

AU2413301

chr2:
61006893-61006893

T

G

exonic

nonsynonymous SNV

NM_022894

c.T816G

p.F272L

22.5

Zhou2022 GE

PAPOLG

SP0158124

chr2:
61014758-61014758

A

G

intronic

-

-

Zhou2022 GE

PAPOLG

SP0042970

chr2:
61014789-61014789

A

C

intronic

De novo

-

-

Fu2022 E

PAPOLG

2-1485-003

chr2:
61009060-61009060

C

T

exonic

De novo

nonsynonymous SNV

NM_022894

c.C947T

p.T316I

32.0

Trost2022 G
Yuen2017 G
Zhou2022 GE

PAPOLG

AU166A

chr2:
61014164-61014164

C

A

exonic

De novo

nonsynonymous SNV

NM_022894

c.C1249A

p.P417T

27.4

-

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

PAPOLG

08C74187

chr2:
61006893-61006893

T

G

exonic

De novo

nonsynonymous SNV

NM_022894

c.T816G

p.F272L

22.5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PAPOLG

2-1485-004

chr2:
61009060-61009060

C

T

exonic

De novo

nonsynonymous SNV

NM_022894

c.C947T

p.T316I

32.0

Yuen2017 G
Zhou2022 GE

PAPOLG

AU069603

chr2:
61004269-61004269

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PAPOLG

SP0097368

chr2:
61014667-61014667

G

T

exonic

De novo

nonsynonymous SNV

NM_022894

c.G1308T

p.W436C

22.4

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

PAPOLG

mAGRE1807

chr2:
61021851-61021851

C

T

exonic

Paternal

stopgain

NM_022894

c.C1996T

p.R666X

40.0

Cirnigliaro2023 G

PAPOLG

2-1633-003

chr2:
61000154-61000154

G

A

intronic

De novo

-

-

Yuen2017 G

PAPOLG

mAGRE5410

chr2:
60983618-60983620

AAG

A

exonic

Maternal

frameshift deletion

NM_022894

c.6_7del

p.K2fs

-

-

Cirnigliaro2023 G

PAPOLG

mAGRE5409

chr2:
60983618-60983620

AAG

A

exonic

Maternal

frameshift deletion

NM_022894

c.6_7del

p.K2fs

-

-

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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