Variant Results

or

Results for "MTUS1"

Variant Events: 38

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

MTUS1

2-1644-004

chr8:
17653378-17653380

CAG

GAA

intronic

De novo

-

Trost2022 G

MTUS1

2-1644-004

chr8:
17653388-17653390

ACC

GCT

intronic

De novo

-

Trost2022 G

MTUS1

1-0338-003

chr8:
17642587-17642587

C

A

intronic

De novo

-

Trost2022 G

MTUS1

5-0131-003

chr8:
17629593-17629593

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

Kim2020:B26

chr8:
17554905-17554905

G

A

UTR5

De novo

-

2.491E-5

Kim2020 E

MTUS1

1-1035-003

chr8:
17647684-17647684

C

G

intronic

De novo

-

Trost2022 G

MTUS1

MSSNG00352-003

chr8:
17577039-17577039

A

G

intronic

De novo

-

Trost2022 G

MTUS1

3-0749-000A

chr8:
17603591-17603591

T

A

intronic

De novo

-

Trost2022 G

MTUS1

1-1090-003

chr8:
17568706-17568706

T

G

intronic

De novo

-

Trost2022 G

MTUS1

5-2015-003

chr8:
17571038-17571038

C

A

intronic

De novo

-

Trost2022 G

MTUS1

iHART1302

chr8:
17503515-17503515

A

ATCTC

exonic

Maternal

frameshift insertion

NM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924

c.1230_1231insGAGA
c.1473_1474insGAGA
c.1167_1168insGAGA
c.3570_3571insGAGA
c.3732_3733insGAGA

p.S411fs
p.S492fs
p.S390fs
p.S1191fs
p.S1245fs

-

8.516E-6

Ruzzo2019 G

MTUS1

TRE_1382

chr8:
17513503-17513503

C

T

exonic

De novo

nonsynonymous SNV

NM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924

c.G475A
c.G718A
c.G412A
c.G2815A
c.G2977A

p.V159I
p.V240I
p.V138I
p.V939I
p.V993I

10.99

1.0E-4

Fu2022 E

MTUS1

1-0279-004

chr8:
17512592-17512592

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

3-0456-000

chr8:
17557488-17557488

T

G

intronic

De novo

-

Yuen2017 G

MTUS1

AU007503

chr8:
17565339-17565339

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

3-0456-000B

chr8:
17557488-17557488

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

AU3692301

chr8:
17615025-17615025

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

2-1626-003

chr8:
17566302-17566302

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

AU079605

chr8:
17643029-17643029

C

T

intronic

De novo

-

Yuen2017 G

MTUS1

2-1295-003

chr8:
17643109-17643109

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MTUS1

13624.p1

chr8:
17504519-17504519

G

A

exonic

De novo

nonsynonymous SNV

NM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924

c.C1069T
c.C1312T
c.C1006T
c.C3409T
c.C3571T

p.R357W
p.R438W
p.R336W
p.R1137W
p.R1191W

27.1

8.29E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE

MTUS1

1-0213-004

chr8:
17538140-17538140

T

C

intronic

De novo

-

Yuen2017 G

MTUS1

11521.p1

chr8:
17612610-17612610

G

C

exonic

Mosaic, De novo

stopgain

NM_001001924
NM_001001925

c.C707G
c.C707G

p.S236X
p.S236X

37.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G

MTUS1

Cukier2014:7663

chr8:
17612686-17612686

A

C

exonic

Unknown

nonsynonymous SNV

NM_001001924
NM_001001925

c.T631G
c.T631G

p.S211A
p.S211A

15.34

0.01

Cukier2014 E

MTUS1

2-1295-003

chr8:
17656650-17656650

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MTUS1

74-0075

chr8:
17565339-17565339

A

C

intronic

De novo

-

Michaelson2012 G

MTUS1

SP0027493

chr8:
17601252-17601252

G

C

exonic

De novo

synonymous SNV

NM_001001924
NM_001001925

c.C2148G
c.C2148G

p.S716S
p.S716S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MTUS1

7-0373-003

chr8:
17566503-17566503

G

A

intronic

De novo

-

Trost2022 G

MTUS1

mAGRE1302

chr8:
17503515-17503515

A

ATCTC

exonic

Maternal

frameshift insertion

NM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924

c.1230_1231insGAGA
c.1473_1474insGAGA
c.1167_1168insGAGA
c.3570_3571insGAGA
c.3732_3733insGAGA

p.S411fs
p.S492fs
p.S390fs
p.S1191fs
p.S1245fs

-

8.516E-6

Cirnigliaro2023 G

MTUS1

SP0027837

chr8:
17611780-17611780

T

G

exonic

De novo

nonsynonymous SNV

NM_001001924
NM_001001925

c.A1537C
c.A1537C

p.K513Q
p.K513Q

19.72

-

Fu2022 E
Zhou2022 GE

MTUS1

1-0203-004

chr8:
17566946-17566947

TA

AT

intronic

De novo

-

Trost2022 G

MTUS1

1-0654-003

chr8:
17523272-17523272

C

T

intronic

De novo

-

Trost2022 G

MTUS1

1-0321-004

chr8:
17590257-17590257

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTUS1

SP0020371

chr8:
17554816-17554816

T

C

exonic

De novo

nonsynonymous SNV

NM_020749

c.A71G

p.N24S

15.78

-

Fu2022 E
Zhou2022 GE

MTUS1

MSSNG00367-004

chr8:
17541327-17541327

C

T

intronic

De novo

-

Trost2022 G

MTUS1

SJD_14.3

chr8:
17511328-17511328

G

C

intronic

De novo

-

Trost2022 G

MTUS1

2-1720-003

chr8:
17566249-17566249

C

T

intronic

De novo

-

Yuen2017 G

MTUS1

1-1105-005

chr8:
17520101-17520101

G

T

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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