Variant Results

or

Results for "SH2D3C"

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

SH2D3C

SP0037251

chr9:
130533643-130533643

G

C

UTR5

De novo

-

Fu2022 E
Trost2022 G

SH2D3C

13686.p1

chr9:
130529312-130529312

C

T

exonic

nonsynonymous SNV

NM_001252334

c.G179A

p.R60Q

9.033

-

Zhou2022 GE

SH2D3C

11552.p1

chr9:
130513438-130513438

G

C

intronic

De novo

-

Krumm2015 E

SH2D3C

2-1375-003

chr9:
130510207-130510207

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SH2D3C

5928

chr9:
130513455-130513455

C

T

exonic

De novo

nonsynonymous SNV

NM_001142533
NM_001142534
NM_005489
NM_001252334
NM_170600

c.G206A
c.G200A
c.G209A
c.G476A
c.G680A

p.R69Q
p.R67Q
p.R70Q
p.R159Q
p.R227Q

29.5

1.652E-5

Fu2022 E
Trost2022 G

SH2D3C

SP0185312

chr9:
130524589-130524589

C

T

UTR5

De novo

-

Trost2022 G

SH2D3C

3-0604-000

chr9:
130526403-130526403

G

C

intronic

De novo

-

Trost2022 G

SH2D3C

MSSNG00172-003

chr9:
130507932-130507932

A

C

intronic

De novo

-

Trost2022 G

SH2D3C

SP0180267

chr9:
130517515-130517515

G

T

UTR5

De novo

-

Trost2022 G

SH2D3C

SP0118621

chr9:
130502532-130502532

A

C

intronic

De novo

-

Trost2022 G

SH2D3C

SP0116146

chr9:
130502532-130502532

A

C

intronic

De novo

-

Trost2022 G

SH2D3C

2-1128-003

chr9:
130511076-130511076

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SH2D3C

12233.p1

chr9:
130513455-130513455

C

T

exonic

De novo

nonsynonymous SNV

NM_001142533
NM_001142534
NM_005489
NM_001252334
NM_170600

c.G206A
c.G200A
c.G209A
c.G476A
c.G680A

p.R69Q
p.R67Q
p.R70Q
p.R159Q
p.R227Q

29.5

1.652E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SH2D3C

1-0714-003

chr9:
130533546-130533546

C

G

UTR5

De novo

-

Trost2022 G

SH2D3C

AU2572301

chr9:
130539387-130539387

G

A

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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