Variant Results

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Results for "PTCD1"

Variant Events: 15

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

PTCD1

NDAR_INVYC397NYA_wes1

chr7:
99021500-99021500

G

A

exonic

De novo

synonymous SNV

NM_015545
NM_001198879

c.C1818T
c.C1965T

p.L606L
p.L655L

-

-

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

PTCD1

mAGRE1627

chr7:
99032453-99032453

C

T

exonic

Paternal

stopgain

NM_015545
NM_001198879

c.G413A
c.G560A

p.W138X
p.W187X

33.0

-

Cirnigliaro2023 G

PTCD1

11572.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

PTCD1

SP0042251

chr7:
99015259-99015259

A

G

UTR3

De novo

-

-

Fu2022 E
Trost2022 G
Trost2022 G
Trost2022 G

PTCD1

1-0681-003

chr7:
99034002-99034002

G

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G

PTCD1

T2T9E-01

chr7:
99014884-99014884

C

G

UTR3

De novo

-

-

Trost2022 G
Trost2022 G

PTCD1

4-0062-003

chr7:
99020141-99020143

GAA

ATT

intronic

De novo

-

-

Trost2022 G

PTCD1

mAGRE1025

chr7:
99032834-99032842

GCGAACAGT

G

exonic

Maternal

frameshift deletion

NM_015545
NM_001198879

c.24_31del
c.171_178del

p.R8fs
p.R57fs

-

Cirnigliaro2023 G

PTCD1

mAGRE1630

chr7:
99032453-99032453

C

T

exonic

Paternal

stopgain

NM_015545
NM_001198879

c.G413A
c.G560A

p.W138X
p.W187X

33.0

-

Cirnigliaro2023 G

PTCD1

AU2437302

chr7:
99033117-99033117

C

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

PTCD1

177-10-113360

chr7:
99017541-99017541

C

A

UTR3

De novo

-

-

Satterstrom2020 E
Trost2022 G

PTCD1

AU024104

chr7:
99025701-99025701

A

G

intronic

De novo

-

-

Yuen2017 G

PTCD1

iHART1025

chr7:
99032834-99032842

GCGAACAGT

G

exonic

Maternal

frameshift deletion

NM_015545
NM_001198879

c.24_31del
c.171_178del

p.R8fs
p.R57fs

-

Ruzzo2019 G

PTCD1

iHART1627

chr7:
99032453-99032453

C

T

exonic

Paternal

stopgain

NM_015545
NM_001198879

c.G413A
c.G560A

p.W138X
p.W187X

33.0

-

Ruzzo2019 G

PTCD1

iHART1630

chr7:
99032453-99032453

C

T

exonic

Paternal

stopgain

NM_015545
NM_001198879

c.G413A
c.G560A

p.W138X
p.W187X

33.0

-

Ruzzo2019 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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