Variant Results

or

Results for "MSR1"

Variant Events: 57

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

MSR1

1-0344-003

chr8:
16780398-16780398

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU1933302

chr8:
16045786-16045790

ATTTT

ATTTTT

intronic

De novo

-

Yuen2017 G

MSR1

2-1176-003

chr8:
16382403-16382403

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

2-1174-005B

chr8:
16519389-16519391

CAT

C

intergenic

De novo

-

Yuen2017 G

MSR1

2-1391-004

chr8:
16411164-16411164

C

G

intergenic

De novo

-

Yuen2017 G

MSR1

AU024105

chr8:
16462052-16462052

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

2-0319-003

chr8:
16539862-16539862

T

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU3997302

chr8:
15978093-15978093

C

A

exonic

De novo

synonymous SNV

NM_138715

c.G1056T

p.L352L

-

Yuen2017 G

MSR1

AU4283301

chr8:
16689773-16689773

T

G

intergenic

De novo

-

Yuen2017 G

MSR1

7-0151-003

chr8:
16457722-16457722

A

G

intergenic

De novo

-

Yuen2017 G

MSR1

AU4336301

chr8:
16355433-16355433

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU2787301

chr8:
16082408-16082408

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

1-0533-003

chr8:
16503154-16503154

C

A

intergenic

De novo

-

Yuen2017 G

MSR1

2-1577-003

chr8:
16848078-16848078

T

G

intergenic

De novo

-

Yuen2017 G

MSR1

AU027506

chr8:
16675637-16675637

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

AU4412302

chr8:
16393150-16393150

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

PN400266

chr8:
16012594-16012594

G

A

exonic

Unknown

stopgain

NM_002445
NM_138715
NM_138716

c.C877T
c.C877T
c.C877T

p.R293X
p.R293X
p.R293X

38.0

0.0074

Leblond2019 E

MSR1

5-0054-003

chr8:
16722795-16722795

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

2-1207-003

chr8:
16778545-16778545

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

PN400375

chr8:
16012594-16012594

G

A

exonic

Unknown

stopgain

NM_002445
NM_138715
NM_138716

c.C877T
c.C877T
c.C877T

p.R293X
p.R293X
p.R293X

38.0

0.0074

Leblond2019 E

MSR1

A17

chr8:
16146508-16146508

A

G

intergenic

De novo

-

Wu2018 G

MSR1

1-0590-003

chr8:
16685020-16685020

A

C

intergenic

De novo

-

Yuen2017 G

MSR1

AU3964302

chr8:
16376827-16376827

T

C

intergenic

De novo

-

Yuen2017 G

MSR1

2-1360-003

chr8:
16173558-16173558

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

2-1360-003

chr8:
16213236-16213236

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

04C32624

chr8:
16032828-16032828

C

G

intronic

De novo

-

Satterstrom2020 E

MSR1

1-0138-003

chr8:
16822249-16822249

A

ATG

intergenic

De novo

-

Yuen2017 G

MSR1

2-1278-003

chr8:
16083926-16083926

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU2109302

chr8:
16547811-16547811

G

T

intergenic

De novo

-

Yuen2017 G

MSR1

5-0105-003

chr8:
16297334-16297334

G

C

intergenic

De novo

-

Yuen2017 G

MSR1

AU3712301

chr8:
16729883-16729883

C

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU4243302

chr8:
16140814-16140814

C

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU4243302

chr8:
16141118-16141118

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

2-1323-003

chr8:
16050021-16050035

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

Yuen2017 G

MSR1

2-1376-003

chr8:
16236300-16236300

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

AU024606

chr8:
16820971-16820971

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

AU3807302

chr8:
16314566-16314566

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

5-0046-003

chr8:
16437318-16437318

G

A

intergenic

De novo

-

Yuen2017 G

MSR1

1-0488-003

chr8:
16704168-16704168

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

2-0286-003

chr8:
16402596-16402596

C

G

intergenic

De novo

-

Yuen2017 G

MSR1

PN400330

chr8:
16012594-16012594

G

A

exonic

Unknown

stopgain

NM_002445
NM_138715
NM_138716

c.C877T
c.C877T
c.C877T

p.R293X
p.R293X
p.R293X

38.0

0.0074

Leblond2019 E

MSR1

1-0393-003

chr8:
16438761-16438761

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

AU074403

chr8:
16505707-16505707

C

G

intergenic

De novo

-

Yuen2017 G

MSR1

PN400215

chr8:
16012594-16012594

G

A

exonic

Unknown

stopgain

NM_002445
NM_138715
NM_138716

c.C877T
c.C877T
c.C877T

p.R293X
p.R293X
p.R293X

38.0

0.0074

Leblond2019 E

MSR1

1-0541-004

chr8:
16657339-16657339

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

2-1210-003

chr8:
16053433-16053433

C

T

intergenic

De novo

-

Yuen2017 G

MSR1

1-0051-005

chr8:
16489207-16489207

A

G

intergenic

De novo

-

Yuen2017 G

MSR1

1-0985-003

chr8:
16839088-16839088

G

C

intergenic

De novo

-

Yuen2017 G

MSR1

1-0224-004

chr8:
16822249-16822249

A

ATG

intergenic

De novo

-

Yuen2017 G

MSR1

2-1291-003

chr8:
16794807-16794807

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

PN400264

chr8:
16012594-16012594

G

A

exonic

Unknown

stopgain

NM_002445
NM_138715
NM_138716

c.C877T
c.C877T
c.C877T

p.R293X
p.R293X
p.R293X

38.0

0.0074

Leblond2019 E

MSR1

1-0051-005

chr8:
16762925-16762928

AAAC

A

intergenic

De novo

-

Yuen2017 G

MSR1

AU2950302

chr8:
16565674-16565674

T

C

intergenic

De novo

-

Yuen2017 G

MSR1

2-1720-003

chr8:
16268537-16268537

A

C

intergenic

De novo

-

Yuen2017 G

MSR1

1-0520-003

chr8:
16415377-16415377

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

2-1291-003

chr8:
16799431-16799431

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSR1

2-1379-003

chr8:
16139510-16139510

C

T

intergenic

De novo

-

Yuen2016 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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