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Results for "SULT1E1"

Variant Events: 13

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
SULT1E1     1-0067-005chr4:
70721170-70721170
CAintronicDe novo--Yuen2017 G
SULT1E1     2-0299-003chr4:
70742565-70742571
TGAGTGATintergenicDe novo--Yuen2017 G
SULT1E1     1-0208-003chr4:
70767479-70767479
AGintergenicDe novo--Yuen2017 G
SULT1E1     iHART2666chr4:
70721145-70721145
CTsplicingMaternalsplicing8.1831.682E-5Ruzzo2019 G
SULT1E1     1-0325-003chr4:
70727233-70727233
AGintergenicDe novo--Yuen2017 G
SULT1E1     iHART2740chr4:
70715196-70715207
CCAGGATTTGGACexonicPaternalframeshift deletionNM_005420c.444_454delp.H148fs--Ruzzo2019 G
SULT1E1     AU1795303chr4:
70720078-70720085
CTATTTATCTATintronicDe novo--Yuen2017 G
SULT1E1     AU3849303chr4:
70762470-70762470
CTintergenicDe novo--Yuen2017 G
SULT1E1     74-0765chr4:
70723347-70723347
CAexonicInheritednonsynonymous SNVNM_005420c.G16Tp.D6Y9.7511.701E-5Patowary2019 E
SULT1E1     iHART2739chr4:
70715196-70715207
CCAGGATTTGGACexonicPaternalframeshift deletionNM_005420c.444_454delp.H148fs--Ruzzo2019 G
SULT1E1     12449.p1chr4:
70718867-70718867
CTintronicDe novo--Turner2016 G
SULT1E1     AU3761301chr4:
70728757-70728757
GTintergenicDe novo--Yuen2017 G
SULT1E1     1-0683-003chr4:
70729569-70729569
TAintergenicDe novo--Yuen2017 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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