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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     AU055603chr8:
97278024-97278024
TAintronicDe novo--Trost2022 G
PTDSS1     5-5180-003chr8:
97295695-97295695
CAintronicDe novo--Trost2022 G
PTDSS1     AU055603chr8:
97278012-97278012
TCintronicDe novo--Trost2022 G
PTDSS1     2-0197-003chr8:
97332548-97332548
AGexonicDe novononsynonymous SNVNM_001290225
NM_014754
c.A710G
c.A1148G
p.Y237C
p.Y383C
14.34-Yuen2015 G
PTDSS1     1-0700-004chr8:
97316318-97316318
CTexonicDe novononsynonymous SNVNM_001290225
NM_014754
c.C365T
c.C803T
p.T122I
p.T268I
33.0-Trost2022 G
Zhou2022 GE
PTDSS1     iHART1818chr8:
97285619-97285619
GAsplicingPaternalsplicing20.3-Ruzzo2019 G
PTDSS1     AU3702306chr8:
97283331-97283331
AGintronicDe novo--Trost2022 G
Yuen2017 G
PTDSS1     MSSNG00030-004chr8:
97335678-97335678
TCintronicDe novo--Trost2022 G
PTDSS1     2-1361-003chr8:
97347252-97347252
AGdownstreamDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PTDSS1     1-1206-003chr8:
97309696-97309696
GAintronicDe novo--Trost2022 G
PTDSS1     MSSNG00121-003chr8:
97329285-97329285
AGintronicDe novo--Trost2022 G
PTDSS1     mAGRE1818chr8:
97285619-97285619
GAsplicingPaternalsplicing20.3-Cirnigliaro2023 G
Source Variant Information

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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 notesView
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