Variant Results

or

or

Results for "PARN"

Variant Events: 20

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

PARN

7-0141-003

chr16:
14649782-14649782

G

C

intronic

De novo

-

-

Yuen2017 G

PARN

AU4033305

chr16:
14635373-14635373

C

A

intronic

De novo

-

-

Yuen2017 G

PARN

7-0222-003

chr16:
14701701-14701701

G

A

intronic

De novo

-

-

Yuen2017 G

PARN

Marques2022:86

chr16:
14723475-14723475

C

T

exonic

nonsynonymous SNV

NM_001242992
NM_002582

c.G76A
c.G76A

p.A26T
p.A26T

24.9

Marques2022 ET

PARN

Marques2022:85

chr16:
14704500-14704500

C

T

splicing

splicing

20.8

-

Marques2022 ET

PARN

1-0354-003

chr16:
14569192-14569205

CCTATTAGTGAGAT

C

intronic

De novo

-

-

Yuen2017 G

PARN

Marques2022:82

chr16:
14576552-14576552

C

G

exonic

nonsynonymous SNV

NM_001242992
NM_001134477
NM_002582

c.G1475C
c.G1430C
c.G1613C

p.R492P
p.R477P
p.R538P

19.54

Marques2022 ET

PARN

Marques2022:81

chr16:
14576541-14576541

G

A

exonic

stopgain

NM_001242992
NM_001134477
NM_002582

c.C1486T
c.C1441T
c.C1624T

p.Q496X
p.Q481X
p.Q542X

21.6

-

Marques2022 ET

PARN

Marques2022:84

chr16:
14700381-14700381

T

C

exonic

nonsynonymous SNV

NM_001242992
NM_001134477
NM_002582

c.A524G
c.A479G
c.A662G

p.Y175C
p.Y160C
p.Y221C

17.3

Marques2022 ET

PARN

Marques2022:83

chr16:
14676079-14676079

T

C

exonic

nonsynonymous SNV

NM_001242992
NM_001134477
NM_002582

c.A1013G
c.A968G
c.A1151G

p.Y338C
p.Y323C
p.Y384C

18.63

Marques2022 ET

PARN

NDAR_INVJG302HJQ_wes1

chr16:
14723490-14723490

C

T

exonic

De novo

nonsynonymous SNV

NM_001242992
NM_002582

c.G61A
c.G61A

p.E21K
p.E21K

27.9

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PARN

1-0354-006

chr16:
14569192-14569205

CCTATTAGTGAGAT

C

intronic

De novo

-

-

Yuen2017 G

PARN

AU3885305

chr16:
14620666-14620666

C

A

intronic

De novo

-

-

Yuen2017 G

PARN

2-1626-003

chr16:
14562912-14562912

T

G

intronic

De novo

-

-

Yuen2017 G

PARN

SP0020554

chr16:
14704492-14704492

G

A

intronic

De novo

-

-

Fu2022 E

PARN

A17

chr16:
14597544-14597544

G

A

intronic

De novo

-

-

Wu2018 G

PARN

2-1206-003

chr16:
14621733-14621733

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PARN

11431.p1

chr16:
14721194-14721195

CT

C

splicing

De novo

splicing

-

-

Wilfert2021 G

PARN

11431_p1

chr16:
14721194-14721195

CT

C

splicing

De novo

splicing

-

-

Fu2022 E

PARN

2-1194-003

chr16:
14625495-14625495

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

Source Variant Information

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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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