Variant Results

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Results for "SH3GLB1"

Variant Events: 11

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

SH3GLB1

12793.p1

chr1:
87189700-87189700

C

A

intronic

De novo

-

-

Turner2016 G

SH3GLB1

2-1315-003

chr1:
87280436-87280436

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SH3GLB1

2-0309-004

chr1:
87268712-87268712

A

G

intergenic

De novo

-

-

Yuen2017 G

SH3GLB1

SP0238882

chr1:
87195786-87195787

GT

G

exonic

frameshift deletion

NM_001206652

c.626delT

p.V209fs

-

-

Zhou2022 GE

SH3GLB1

mAGRE5808

chr1:
87200761-87200761

G

A

splicing

Maternal

splicing

20.9

-

Cirnigliaro2023 G

SH3GLB1

2-1302-003

chr1:
87302770-87302770

G

A

intergenic

De novo

-

-

Yuen2017 G

SH3GLB1

9-0011-003

chr1:
87180654-87180654

C

T

intronic

De novo

-

-

Trost2022 G

SH3GLB1

SJD_50.5

chr1:
87184024-87184024

G

A

intronic

De novo

-

-

Trost2022 G

SH3GLB1

AU3891302

chr1:
87194080-87194080

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SH3GLB1

5-0084-003

chr1:
87276813-87276814

CA

C

intergenic

De novo

-

-

Yuen2017 G

SH3GLB1

111311

chr1:
87194161-87194161

A

G

exonic

nonsynonymous SNV

NM_001206651

c.A646G

p.K216E

-

-

Woodbury-Smith2022 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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