Variant Results

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Results for "SULT1E1"

Variant Events: 14

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

1-0067-005

chr4:
70721170-70721170

C

A

intronic

De novo

-

-

Yuen2017 G

SULT1E1

2-0299-003

chr4:
70742565-70742571

TGAGTGA

T

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

1-0208-003

chr4:
70767479-70767479

A

G

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

iHART2666

chr4:
70721145-70721145

C

T

splicing

Maternal

splicing

8.183

Ruzzo2019 G

SULT1E1

1-0325-003

chr4:
70727233-70727233

A

G

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

iHART2740

chr4:
70715196-70715207

CCAGGATTTGGA

C

exonic

Paternal

frameshift deletion

NM_005420

c.444_454del

p.H148fs

-

-

Ruzzo2019 G

SULT1E1

AU1795303

chr4:
70720078-70720085

CTATTTAT

CTAT

intronic

De novo

-

-

Yuen2017 G

SULT1E1

AU3849303

chr4:
70762470-70762470

C

T

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

74-0765

chr4:
70723347-70723347

C

A

exonic

Inherited

nonsynonymous SNV

NM_005420

c.G16T

p.D6Y

9.751

Patowary2019 E

SULT1E1

iHART2739

chr4:
70715196-70715207

CCAGGATTTGGA

C

exonic

Paternal

frameshift deletion

NM_005420

c.444_454del

p.H148fs

-

-

Ruzzo2019 G

SULT1E1

12449.p1

chr4:
70718867-70718867

C

T

intronic

De novo

-

-

Turner2016 G

SULT1E1

AU3761301

chr4:
70728757-70728757

G

T

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

1-0683-003

chr4:
70729569-70729569

T

A

intergenic

De novo

-

-

Yuen2017 G

SULT1E1

SP0061973

chr4:
70709895-70709895

C

T

exonic

De novo

synonymous SNV

NM_005420

c.G756A

p.S252S

-

Fu2022 E

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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