Variant Results

or

Results for "PTCD3"

Variant Events: 12

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

PTCD3

SP0007815

chr2:
86360263-86360263

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PTCD3

AU220A

chr2:
86333407-86333407

C

T

exonic

De novo

nonsynonymous SNV

NM_017952

c.C37T

p.R13C

13.61

1.701E-5

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

PTCD3

SP0224565

chr2:
86350891-86350891

T

G

intronic

De novo

-

Trost2022 G

PTCD3

SSC08334

chr2:
86360601-86360601

A

G

intronic

De novo

-

1.659E-5

Trost2022 G

PTCD3

13625.p1

chr2:
86360601-86360601

A

G

intronic

De novo

-

1.659E-5

Satterstrom2020 E

PTCD3

SSC08908

chr2:
86338150-86338156

GCCAGTA

G

intronic

De novo

-

Trost2022 G

PTCD3

SP0061818

chr2:
86350889-86350889

T

G

intronic

De novo

-

Trost2022 G

PTCD3

MT_156.3

chr2:
86336115-86336115

A

T

intronic

De novo

-

Trost2022 G

PTCD3

iHART2310

chr2:
86344194-86344198

CAAAG

C

exonic

Paternal

frameshift deletion

NM_017952

c.327_330del

p.A109fs

-

3.416E-5

Ruzzo2019 G

PTCD3

13823.p1

chr2:
86338150-86338156

GCCAGTA

G

intronic

De novo

-

Satterstrom2020 E

PTCD3

AU3175303

chr2:
86359528-86359528

C

T

exonic

Maternal

stopgain

NM_017952

c.C1354T

p.Q452X

13.3

-

Cirnigliaro2023 G

PTCD3

mAGRE2310

chr2:
86344194-86344198

CAAAG

C

exonic

Paternal

frameshift deletion

NM_017952

c.327_330del

p.A109fs

-

3.416E-5

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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