Variant Results

or

Results for "SMC2"

Variant Events: 33

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

SMC2

1-0494-003A

chr9:
107042047-107042047

C

T

intergenic

De novo

-

Yuen2017 G

SMC2

1-0595-005

chr9:
106919502-106919508

TAAAAAG

T

intergenic

De novo

-

Yuen2017 G

SMC2

A11

chr9:
107030387-107030387

G

A

intergenic

De novo

-

Wu2018 G

SMC2

AU3702307

chr9:
107124579-107124579

T

C

intergenic

De novo

-

Yuen2017 G

SMC2

11252.p1

chr9:
107027645-107027645

A

T

intergenic

De novo

-

Turner2016 G

SMC2

2-1436-003

chr9:
107154830-107154830

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

SP0033135

chr9:
106874011-106874011

T

C

exonic

De novo

synonymous SNV

NM_001042550
NM_001042551
NM_001265602
NM_006444

c.T1170C
c.T1170C
c.T1170C
c.T1170C

p.N390N
p.N390N
p.N390N
p.N390N

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SMC2

1-0651-003

chr9:
107102604-107102604

C

T

intergenic

De novo

-

Yuen2017 G

SMC2

AU4212303

chr9:
107080929-107080929

C

T

intergenic

De novo

-

Yuen2017 G

SMC2

2-1456-003

chr9:
107053266-107053266

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

1-0494-003

chr9:
107042047-107042047

C

T

intergenic

De novo

-

Yuen2017 G

SMC2

AU1542301

chr9:
107081683-107081683

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

AU4463303

chr9:
107187064-107187064

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

AU3517302

chr9:
106977965-106977965

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

1-0051-004

chr9:
106900140-106900147

CAAAAGTG

TATTTTAA

intronic

De novo

-

Trost2022 G

SMC2

1-0051-005

chr9:
106900145-106900147

GTG

TTTAA

intronic

De novo

-

Trost2022 G

SMC2

1-0051-004

chr9:
106900135-106900137

TAC

GA

intronic

De novo

-

Trost2022 G

SMC2

AU4392302

chr9:
107046781-107046781

A

G

intergenic

De novo

-

Yuen2017 G

SMC2

1-0051-005

chr9:
106900136-106900142

ACAACAA

TAAAGTTT

intronic

De novo

-

Trost2022 G

SMC2

7-0188-003

chr9:
107218012-107218012

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

AU3190305

chr9:
107147744-107147744

A

G

intergenic

De novo

-

Yuen2017 G

SMC2

AU4007302

chr9:
107067258-107067258

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

REACH000602

chr9:
106868161-106868161

T

C

intronic

De novo

-

Trost2022 G

SMC2

AU047704

chr9:
107034874-107034874

T

C

intergenic

De novo

-

Yuen2017 G

SMC2

1-0051-004

chr9:
106900130-106900132

TTT

AA

intronic

De novo

-

Trost2022 G

SMC2

2-1295-003

chr9:
106898598-106898598

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SMC2

AU4129303

chr9:
106865462-106865462

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMC2

1-0701-003

chr9:
107096210-107096210

A

G

intergenic

De novo

-

Yuen2017 G

SMC2

A17

chr9:
106962886-106962886

G

A

intergenic

De novo

-

Wu2018 G

SMC2

2-1297-004

chr9:
107171796-107171796

G

A

intergenic

De novo

-

Yuen2017 G

SMC2

1-0595-004

chr9:
106919502-106919508

TAAAAAG

T

intergenic

De novo

-

Yuen2017 G

SMC2

7-0287-003

chr9:
106903886-106903886

G

C

downstream

De novo

-

Trost2022 G

SMC2

AU072005

chr9:
106866535-106866535

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 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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