Variant Results

or

Results for "LRPPRC"

Variant Events: 32

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

LRPPRC

1-0489-003

chr2:
44325931-44325931

G

A

intergenic

De novo

-

Yuen2016 G

LRPPRC

DEASD_0094_001

chr2:
44184566-44184566

G

A

exonic

De novo

nonsynonymous SNV

NM_133259

c.C1607T

p.S536L

8.105

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRPPRC

MT_47.3

chr2:
44150041-44150041

C

G

intronic

De novo

-

Trost2022 G

LRPPRC

1044

chr2:
44149979-44149979

T

C

intronic

De novo

-

Trost2022 G

LRPPRC

5-1042-003

chr2:
44213314-44213314

G

C

intronic

De novo

-

Trost2022 G

LRPPRC

7-0266-003

chr2:
44194549-44194549

T

C

intronic

De novo

-

Trost2022 G

LRPPRC

2-1497-003

chr2:
44364063-44364063

C

G

intergenic

De novo

-

Yuen2017 G

LRPPRC

AU1987302

chr2:
44208751-44208751

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRPPRC

SP0119309

chr2:
44153120-44153120

C

G

intronic

De novo

-

Fu2022 E

LRPPRC

2-1497-003

chr2:
44357893-44357893

C

T

intergenic

De novo

-

Yuen2017 G

LRPPRC

472-05-104142

chr2:
44171063-44171063

G

C

intronic

De novo

-

8.843E-6

Satterstrom2020 E
Trost2022 G

LRPPRC

SP0117527

chr2:
44116924-44116924

G

A

exonic

synonymous SNV

NM_133259

c.C4077T

p.Y1359Y

-

1.0E-4

Zhou2022 GE

LRPPRC

2-1407-003

chr2:
44319876-44319879

CTTT

CT

intergenic

De novo

-

Yuen2017 G

LRPPRC

A1389B

chr2:
44115759-44115759

A

G

exonic

De novo

synonymous SNV

NM_133259

c.T4165C

p.L1389L

-

Fu2022 E

LRPPRC

5-0087-003

chr2:
44236184-44236184

T

G

intergenic

De novo

-

Yuen2017 G

LRPPRC

3-0661-000

chr2:
44372666-44372666

C

T

intergenic

De novo

-

Yuen2017 G

LRPPRC

1-0160-004

chr2:
44184103-44184103

C

CTTTATGTTTATCTTTCAGCTTT

intronic

De novo

-

Yuen2017 G

LRPPRC

2-0304-003

chr2:
44183798-44183798

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRPPRC

14547.p1

chr2:
44129266-44129266

T

TA

intronic

De novo

-

Wilfert2021 G

LRPPRC

AU027506

chr2:
44309439-44309439

C

T

intergenic

De novo

-

Yuen2017 G

LRPPRC

AU3874303

chr2:
44153171-44153171

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRPPRC

14370.p1

chr2:
44304702-44304702

A

C

intergenic

De novo

-

Turner2016 G

LRPPRC

14370.p1

chr2:
44307263-44307263

G

A

intergenic

De novo

-

Turner2016 G

LRPPRC

G01_GEA508HI

chr2:
44126557-44126557

A

G

intronic

De novo

-

Fu2022 E

LRPPRC

mAGRE5651

chr2:
44172511-44172511

T

TC

exonic

Maternal

frameshift insertion

NM_133259

c.2255_2256insG

p.V752fs

-

Cirnigliaro2023 G

LRPPRC

3-0456-000

chr2:
44251644-44251644

G

A

intergenic

De novo

-

Yuen2017 G

LRPPRC

mAGRE5650

chr2:
44172511-44172511

T

TC

exonic

Maternal

frameshift insertion

NM_133259

c.2255_2256insG

p.V752fs

-

Cirnigliaro2023 G

LRPPRC

13874.p1

chr2:
44330854-44330854

C

T

intergenic

De novo

-

Turner2016 G

LRPPRC

1-0271-004

chr2:
44189484-44189484

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRPPRC

1-0344-003

chr2:
44330984-44330984

A

T

intergenic

De novo

-

Yuen2017 G

LRPPRC

3-0456-000B

chr2:
44251644-44251644

G

A

intergenic

De novo

-

Yuen2017 G

LRPPRC

3-0456-000B

chr2:
44255830-44255830

T

C

intergenic

De novo

-

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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