Variant Results

or

or

Results for "PLCL1"

Variant Events: 29

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

PLCL1

1-0052-004

chr2:
199130750-199130750

C

T

intergenic

De novo

-

-

Yuen2017 G

PLCL1

1-0126-004

chr2:
199129095-199129095

A

T

intergenic

De novo

-

-

Yuen2017 G

PLCL1

AU007503

chr2:
198733033-198733033

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLCL1

SP0097606

chr2:
198948953-198948953

A

G

exonic

De novo

nonsynonymous SNV

NM_006226

c.A712G

p.T238A

14.06

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLCL1

2-0003-003

chr2:
199030535-199030535

G

T

intergenic

De novo

-

-

Yuen2017 G

PLCL1

AU0452304

chr2:
198854834-198854834

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLCL1

1-0004-003

chr2:
198791563-198791563

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLCL1

MSSNG00018-003

chr2:
198669786-198669786

T

C

UTR5

De novo

-

-

Trost2022 G

PLCL1

1-0485-003

chr2:
198954216-198954216

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLCL1

2-0197-004

chr2:
198939814-198939814

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PLCL1

74-0075

chr2:
198733033-198733033

T

C

intronic

De novo

-

-

Michaelson2012 G

PLCL1

1-0172-005

chr2:
198827809-198827809

T

C

intronic

De novo

-

-

Trost2022 G

PLCL1

74-0352

chr2:
198953608-198953608

A

G

exonic

De novo

synonymous SNV

NM_006226

c.A2742G

p.L914L

-

-

Michaelson2012 G

PLCL1

MSSNG00108-003

chr2:
198839902-198839902

T

G

intronic

De novo

-

-

Trost2022 G

PLCL1

MSSNG00033-003

chr2:
198780995-198780995

A

G

intronic

De novo

-

-

Trost2022 G

PLCL1

7-0279-003

chr2:
198787927-198787927

G

A

intronic

De novo

-

-

Trost2022 G

PLCL1

REACH000582

chr2:
198739423-198739423

C

T

intronic

De novo

-

-

Trost2022 G

PLCL1

MSSNG00184-003

chr2:
198769540-198769540

G

C

intronic

De novo

-

-

Trost2022 G

PLCL1

1-0319-004

chr2:
198676611-198676611

G

A

intronic

De novo

-

-

Trost2022 G

PLCL1

3-0702-000

chr2:
198713759-198713759

T

C

intronic

De novo

-

-

Trost2022 G

PLCL1

AU4479301

chr2:
199013907-199013907

A

AT

UTR3

De novo

-

-

Trost2022 G

PLCL1

MSSNG00239-003

chr2:
198942869-198942869

C

T

intronic

De novo

-

-

Trost2022 G

PLCL1

SP0050661

chr2:
198949132-198949132

C

T

exonic

De novo

synonymous SNV

NM_006226

c.C891T

p.R297R

-

Trost2022 G

PLCL1

5-0140-003

chr2:
198780820-198780820

T

A

intronic

De novo

-

-

Yuen2017 G

PLCL1

MSSNG00196-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

PLCL1

MSSNG00131-003

chr2:
198917390-198917390

G

C

intronic

De novo

-

-

Trost2022 G

PLCL1

Costa2023:P32-1

chr2:
199011526-199011526

A

G

exonic

De novo

nonsynonymous SNV

NM_006226

c.A3128G

p.N1043S

6.959

-

Costa2023 E

PLCL1

MSSNG00341-004

chr2:
198844806-198844806

G

A

intronic

De novo

-

-

Trost2022 G

PLCL1

MSSNG00221-003

chr2:
198860434-198860434

C

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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