Variant Results

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Results for "PTCHD1"

Variant Events: 11

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

PTCHD1

2-1617-003

chrX:
23360445-23360450

TTTTTA

T

intronic

De novo

-

-

Yuen2017 G

PTCHD1

AU072505

chrX:
23360445-23360450

TTTTTA

T

intronic

De novo

-

-

Yuen2017 G

PTCHD1

2-1195-003

chrX:
23532928-23532931

AGGG

AGGGG

intergenic

De novo

-

-

Yuen2017 G

PTCHD1

5-0114-003

chrX:
23398882-23398882

T

A

intronic

De novo

-

-

Yuen2017 G

PTCHD1

2-0278-003

chrX:
23665735-23665735

C

G

intergenic

De novo

-

-

Yuen2017 G

PTCHD1

2-1194-003

chrX:
23450010-23450010

G

A

intergenic

De novo

-

-

Yuen2017 G

PTCHD1

AN09730

chrX:
23410878-23410878

C

T

exonic

Unknown

nonsynonymous SNV

NM_173495

c.C1243T

p.L415F

7.789

-

D’Gama2015 T

PTCHD1

Ishay2021:26

chrX:
23412266-23412266

T

G

exonic

Maternal

nonsynonymous SNV

NM_173495

c.T2631G

p.D877E

10.32

-

Ishay2021 E

PTCHD1

AU031003

chrX:
23513797-23513797

G

A

intergenic

De novo

-

-

Yuen2017 G

PTCHD1

AU3777301

chrX:
23357588-23357588

C

T

intronic

De novo

-

-

Yuen2017 G

PTCHD1

SP0031664

chrX:
23398342-23398342

T

C

exonic

nonsynonymous SNV

NM_173495

c.T986C

p.F329S

14.25

-

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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