Variant Results

or

Results for "SGSM3"

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

SGSM3

Lim2017:5420

chr22:
40802589-40802589

C

T

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.C919T
c.C1108T

p.R307C
p.R370C

23.6

3.508E-5

Lim2017 E

SGSM3

1-0467-005

chr22:
40766509-40766509

G

T

upstream

De novo

-

Yuen2017 G

SGSM3

1-0820-003

chr22:
40801424-40801424

C

T

intronic

De novo

-

Yuen2017 G

SGSM3

13625.p1

chr22:
40802668-40802668

T

C

splicing

Paternal

splicing

15.09

-

O’Roak2012a T

SGSM3

2-1116-003

chr22:
40778680-40778680

C

T

intronic

De novo

-

Yuen2017 G

SGSM3

G01-GEA-28-HI

chr22:
40804607-40804611

TCACA

T

intronic

De novo

-

Satterstrom2020 E

SGSM3

iHART3023

chr22:
40802461-40802461

C

CA

exonic

Maternal

frameshift insertion

NM_001301849
NM_015705

c.792dupA
c.981dupA

p.S264fs
p.S327fs

-

4.0E-4

Ruzzo2019 G

SGSM3

12637.p1

chr22:
40804702-40804702

G

A

splicing

Paternal

splicing

14.72

-

O’Roak2012a T

SGSM3

1-0433-004

chr22:
40773817-40773817

G

A

intronic

De novo

-

Yuen2017 G

SGSM3

Lim2017:11619

chr22:
40803493-40803493

G

A

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.G1256A
c.G1445A

p.R419Q
p.R482Q

21.1

8.478E-6

Lim2017 E

SGSM3

5420

chr22:
40802589-40802589

C

T

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.C919T
c.C1108T

p.R307C
p.R370C

23.6

3.508E-5

Fu2022 E

SGSM3

11523.p1

chr22:
40802589-40802589

C

T

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.C919T
c.C1108T

p.R307C
p.R370C

23.6

3.508E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

SGSM3

12791.p1

chr22:
40804965-40804965

A

G

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.A1664G
c.A1931G

p.D555G
p.D644G

16.34

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2012a T
Satterstrom2020 E

SGSM3

12791_p1

chr22:
40804965-40804965

A

G

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.A1664G
c.A1931G

p.D555G
p.D644G

16.34

-

Fu2022 E

SGSM3

11619

chr22:
40803493-40803493

G

A

exonic

De novo

nonsynonymous SNV

NM_001301849
NM_015705

c.G1256A
c.G1445A

p.R419Q
p.R482Q

21.1

8.478E-6

Fu2022 E
Satterstrom2020 E

SGSM3

1-0186-005

chr22:
40795027-40795028

AC

A

intronic

De novo

-

Yuen2017 G

SGSM3

AN09714

chr22:
40801735-40801735

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301849
NM_015705

c.C512T
c.C701T

p.A171V
p.A234V

13.77

8.263E-6

D’Gama2015 T

SGSM3

AU3918302

chr22:
40804749-40804749

C

T

intronic

De novo

-

8.264E-6

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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