Variant Results

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Results for "PDCD11"

Variant Events: 13

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

PDCD11

SP0001808

chr10:
105205111-105205111

T

C

intronic

De novo

-

Fu2022 E

PDCD11

14643.p1

chr10:
105184868-105184868

G

A

exonic

De novo

nonsynonymous SNV

NM_014976

c.G2891A

p.R964H

13.84

6.59E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

PDCD11

SP0123550

chr10:
105197838-105197838

T

G

intronic

De novo

-

Fu2022 E

PDCD11

SP0022102

chr10:
105183373-105183373

C

T

exonic

De novo

synonymous SNV

NM_014976

c.C2721T

p.H907H

-

9.887E-5

Fu2022 E

PDCD11

37086

chr10:
105184868-105184868

G

A

exonic

De novo

nonsynonymous SNV

NM_014976

c.G2891A

p.R964H

13.84

6.59E-5

Fu2022 E

PDCD11

SP0010834

chr10:
105187162-105187162

T

G

intronic

De novo

-

Fu2022 E

PDCD11

SP0029524

chr10:
105179261-105179261

C

G

intronic

De novo

-

Fu2022 E

PDCD11

Cukier2014:7435

chr10:
105202091-105202091

G

T

exonic

Unknown

nonsynonymous SNV

NM_014976

c.G4829T

p.R1610L

22.5

0.0018

Cukier2014 E

PDCD11

AU3154302

chr10:
105168731-105168731

C

T

intronic

De novo

-

Yuen2017 G

PDCD11

2-1355-004

chr10:
105158109-105158109

T

A

intronic

De novo

-

Yuen2017 G

PDCD11

12208.p1

chr10:
105160315-105160315

A

G

intronic

De novo

-

4.122E-5

Satterstrom2020 E

PDCD11

2-1635-004

chr10:
105201953-105201953

T

G

intronic

De novo

-

Yuen2017 G

PDCD11

1-0359-003

chr10:
105168393-105168393

G

A

intronic

De novo

-

Yuen2017 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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