Variant Results

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or

Results for "SMC3"

Variant Events: 16

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

SMC3

Wang2023:120

chr10:
112361829-112361832

TTAA

T

exonic

De novo

nonframeshift deletion

NM_005445

c.2999_3001del

p.1000_1001del

-

-

Wang2023 E

SMC3

212-21048-1

chr10:
112359554-112359555

TT

TTT

exonic

De novo

frameshift insertion

NM_005445

c.2412dupT

p.I804fs

-

-

Stessman2017 T
Stessman2017 T

SMC3

236-05-103361

chr10:
112363089-112363094

AATTAT

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

SMC3

SP0145703

chr10:
112356246-112356249

CAGA

C

exonic

nonframeshift deletion

NM_005445

c.2055_2057del

p.685_686del

-

Zhou2022 GE

SMC3

AU3846302

chr10:
112363089-112363097

AATTATATT

AATT

intronic

De novo

-

-

Yuen2017 G

SMC3

2-1456-004

chr10:
112400317-112400317

G

A

intergenic

De novo

-

-

Yuen2017 G

SMC3

11519.p1

chr10:
112359556-112359556

C

T

exonic

De novo

nonsynonymous SNV

NM_005445

c.C2413T

p.R805C

21.7

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SMC3

19991-31601

chr10:
112352910-112352910

T

C

exonic

Inherited

nonsynonymous SNV

NM_005445

c.T1892C

p.L631P

22.8

-

Callaghan2019 G

SMC3

2-1272-003

chr10:
112382819-112382819

T

C

intergenic

De novo

-

-

Yuen2016 G

SMC3

Mahjani2021:40

chr10:
112337646-112337646

G

C

exonic

nonsynonymous SNV

NM_005445

c.G324C

p.Q108H

17.62

-

Mahjani2021 E

SMC3

AU3862305

chr10:
112361866-112361866

A

T

exonic

De novo

nonsynonymous SNV

NM_005445

c.A3035T

p.K1012I

17.85

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SMC3

838_17au

chr10:
112327468-112327469

GC

G

UTR5

De novo

-

-

Fu2022 E

SMC3

2-1647-003

chr10:
112349614-112349620

TTTAAAA

T

intronic

De novo

-

Trost2022 G

SMC3

Uddin2014:39

chr10:
112359556-112359556

C

T

exonic

De novo

nonsynonymous SNV

NM_005445

c.C2413T

p.R805C

21.7

Uddin2014 E

SMC3

SP0027490

chr10:
112359515-112359515

T

G

exonic

De novo

nonsynonymous SNV

NM_005445

c.T2372G

p.L791W

20.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SMC3

SSC02433

chr10:
112359556-112359556

C

T

exonic

De novo

nonsynonymous SNV

NM_005445

c.C2413T

p.R805C

21.7

Antaki2022 GE
Fu2022 E
Lim2017 E
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
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