Variant Results

or

or

Results for "PCNX3"

Variant Events: 17

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

PCNX3

SP0004175

chr11:
65390998-65390998

C

G

exonic

De novo

synonymous SNV

NM_032223

c.C2394G

p.G798G

-

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

PCNX3

200675333_1082034749

chr11:
65403905-65403905

G

A

exonic

De novo

synonymous SNV

NM_032223

c.G5637A

p.P1879P

-

Fu2022 E

PCNX3

EGAN00001100975

chr11:
65387032-65387032

A

G

exonic

De novo

nonsynonymous SNV

NM_032223

c.A1730G

p.D577G

16.59

-

Fu2022 E

PCNX3

SP0065777

chr11:
65384872-65384872

C

T

intronic

De novo

-

-

Trost2022 G

PCNX3

SP0032530

chr11:
65387422-65387422

C

T

intronic

De novo

-

Trost2022 G

PCNX3

SP0000180

chr11:
65403381-65403381

C

T

intronic

De novo

-

-

Fu2022 E

PCNX3

SP0090501

chr11:
65396799-65396799

A

C

intronic

De novo

-

-

Trost2022 G

PCNX3

SP0247473

chr11:
65396799-65396799

A

C

intronic

De novo

-

-

Trost2022 G

PCNX3

SP0026182

chr11:
65396799-65396799

A

C

intronic

De novo

-

-

Trost2022 G

PCNX3

SP0027493

chr11:
65396799-65396799

A

C

intronic

De novo

-

-

Trost2022 G

PCNX3

200675333@1082034749

chr11:
65403905-65403905

G

A

exonic

De novo

synonymous SNV

NM_032223

c.G5637A

p.P1879P

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCNX3

7-0128-003

chr11:
65390040-65390040

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PCNX3

SP0147773

chr11:
65386236-65386236

G

A

exonic

De novo

nonsynonymous SNV

NM_032223

c.G1403A

p.R468Q

14.18

Fu2022 E
Zhou2022 GE

PCNX3

SP0065884

chr11:
65386044-65386044

C

G

exonic

De novo

nonsynonymous SNV

NM_032223

c.C1211G

p.P404R

8.803

-

Fu2022 E
Zhou2022 GE

PCNX3

SP0143361

chr11:
65392909-65392909

G

A

exonic

De novo

synonymous SNV

NM_032223

c.G3063A

p.L1021L

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCNX3

Chen2017:13

chr11:
65403905-65403905

G

A

exonic

De novo

synonymous SNV

NM_032223

c.G5637A

p.P1879P

-

Chen2017 E

PCNX3

SP0109133

chr11:
65386308-65386308

C

T

exonic

De novo

nonsynonymous SNV

NM_032223

c.C1475T

p.P492L

16.82

-

Fu2022 E
Zhou2022 GE

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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