Variant Results

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Results for "PTDSS1"

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

PTDSS1

1-0700-004

chr8:
97316318-97316318

C

T

exonic

De novo

nonsynonymous SNV

NM_001290225
NM_014754

c.C365T
c.C803T

p.T122I
p.T268I

33.0

-

Trost2022 G
Zhou2022 GE

PTDSS1

AU3702306

chr8:
97283331-97283331

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTDSS1

2-1361-003

chr8:
97347252-97347252

A

G

downstream

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PTDSS1

mAGRE1818

chr8:
97285619-97285619

G

A

splicing

Paternal

splicing

20.3

-

Cirnigliaro2023 G

PTDSS1

AU055603

chr8:
97278024-97278024

T

A

intronic

De novo

-

-

Trost2022 G

PTDSS1

5-5180-003

chr8:
97295695-97295695

C

A

intronic

De novo

-

-

Trost2022 G

PTDSS1

AU055603

chr8:
97278012-97278012

T

C

intronic

De novo

-

-

Trost2022 G

PTDSS1

2-0197-003

chr8:
97332548-97332548

A

G

exonic

De novo

nonsynonymous SNV

NM_001290225
NM_014754

c.A710G
c.A1148G

p.Y237C
p.Y383C

14.34

-

Yuen2015 G

PTDSS1

iHART1818

chr8:
97285619-97285619

G

A

splicing

Paternal

splicing

20.3

-

Ruzzo2019 G

PTDSS1

MSSNG00030-004

chr8:
97335678-97335678

T

C

intronic

De novo

-

-

Trost2022 G

PTDSS1

1-1206-003

chr8:
97309696-97309696

G

A

intronic

De novo

-

-

Trost2022 G

PTDSS1

MSSNG00121-003

chr8:
97329285-97329285

A

G

intronic

De novo

-

-

Trost2022 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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