Variant Results

or

or

Results for "SPRED1"

Variant Events: 18

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

SPRED1

2-1709-003

chr15:
38715996-38715998

ATT

AT

intergenic

De novo

-

-

Yuen2017 G

SPRED1

SSC09642

chr15:
38643239-38643239

G

T

exonic

De novo

nonsynonymous SNV

NM_152594

c.G709T

p.V237F

20.1

-

Fu2022 E

SPRED1

1-0599-005

chr15:
38616196-38616196

A

ATTTTTT

intronic

De novo

-

-

Trost2022 G

SPRED1

MSSNG00332-003

chr15:
38622861-38622861

G

T

intronic

De novo

-

-

Trost2022 G

SPRED1

AU2320301

chr15:
38599489-38599489

T

C

intronic

De novo

-

-

Trost2022 G

SPRED1

4-0009-003

chr15:
38606734-38606734

T

C

intronic

De novo

-

-

Trost2022 G

SPRED1

2-1402-003

chr15:
38566170-38566170

C

A

intronic

De novo

-

-

Yuen2017 G

SPRED1

MT_178.4

chr15:
38585095-38585098

TGTA

T

intronic

De novo

-

-

Trost2022 G

SPRED1

MT_22.3

chr15:
38589722-38589722

A

C

intronic

De novo

-

-

Trost2022 G

SPRED1

Mahjani2021:90

chr15:
38614612-38614612

T

C

splicing

splicing

23.5

-

Mahjani2021 E

SPRED1

1-0552-003

chr15:
38681785-38681785

C

T

intergenic

De novo

-

-

Yuen2017 G

SPRED1

2-1176-003

chr15:
38718499-38718499

A

G

intergenic

De novo

-

-

Yuen2017 G

SPRED1

2-1086-003

chr15:
38683271-38683271

A

C

intergenic

De novo

-

-

Yuen2017 G

SPRED1

7-0454-003

chr15:
38551789-38551789

G

GAT

intronic

De novo

-

-

Trost2022 G

SPRED1

1-0603-003

chr15:
38568431-38568431

C

T

intronic

De novo

-

-

Trost2022 G

SPRED1

AU4314302

chr15:
38584863-38584863

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPRED1

AU4237304

chr15:
38546891-38546891

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SPRED1

1-0417-003

chr15:
38639073-38639073

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
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 notes	View
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