Variant Results

or

Results for "SH3YL1"

Variant Events: 15

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

SH3YL1

5-0146-003

chr2:
253772-253772

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3YL1

2-0122-003

chr2:
235158-235158

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3YL1

12705.p1

chr2:
233238-233238

C

G

intronic

De novo

-

Satterstrom2020 E

SH3YL1

UK10K_SKUSE5080232

chr2:
234212-234212

C

T

exonic

De novo

nonsynonymous SNV

NM_001159597
NM_015677
NM_001282682
NM_001282687

c.G352A
c.G352A
c.G64A
c.G64A

p.G118R
p.G118R
p.G22R
p.G22R

17.41

3.319E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SH3YL1

REACH000380

chr2:
235156-235156

G

A

intronic

De novo

-

Trost2022 G

SH3YL1

SSC05172

chr2:
233238-233238

C

G

intronic

De novo

-

Trost2022 G

SH3YL1

MSSNG00043-004A

chr2:
252602-252602

G

A

intronic

De novo

-

Trost2022 G

SH3YL1

2-1425-004

chr2:
239247-239247

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3YL1

3-0791-000

chr2:
249544-249544

C

G

intronic

De novo

-

Trost2022 G

SH3YL1

3-0405-000

chr2:
230496-230496

G

A

intronic

De novo

-

Trost2022 G

SH3YL1

7-0199-003

chr2:
223122-223122

A

G

intronic

De novo

-

Trost2022 G

SH3YL1

349-04-101211

chr2:
242877-242877

T

C

intronic

De novo

-

Fu2022 E

SH3YL1

1462001

chr2:
224869-224869

C

A

exonic

De novo

nonsynonymous SNV

NM_015677
NM_001282687

c.G833T
c.G545T

p.R278I
p.R182I

4.833

-

Fu2022 E

SH3YL1

5-0034-003

chr2:
264273-264273

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

SH3YL1

SP0084864

chr2:
262602-262602

G

C

intronic

De novo

-

Trost2022 G

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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