Variant Results

or

Results for "PLG"

Variant Events: 31

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

PLG

1-0347-003

chr6:
161220654-161220654

T

TTTAGTTTAC

intergenic

De novo

-

Yuen2017 G

PLG

ASC_151533

chr6:
161160146-161160146

G

T

exonic

De novo

stopgain

NM_000301

c.G1924T

p.E642X

38.0

-

Fu2022 E

PLG

AC843.202

chr6:
161139767-161139767

G

T

exonic

De novo

nonsynonymous SNV

NM_000301

c.G993T

p.R331S

2.543

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLG

2-1644-004

chr6:
161335341-161335341

C

T

intergenic

De novo

-

Yuen2017 G

PLG

AC843_202

chr6:
161139767-161139767

G

T

exonic

De novo

nonsynonymous SNV

NM_000301

c.G993T

p.R331S

2.543

-

Fu2022 E

PLG

2-1066-003

chr6:
161152909-161152909

C

T

exonic

De novo

nonsynonymous SNV

NM_000301

c.C1571T

p.A524V

12.41

-

Yuen2017 G
Zhou2022 GE

PLG

7-0223-003

chr6:
161214038-161214038

C

G

intergenic

De novo

-

Yuen2017 G

PLG

2-1632-003

chr6:
161147669-161147669

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLG

AU3861303

chr6:
161145428-161145428

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLG

1-0261-003

chr6:
161149302-161149312

TACTAAAAAAC

GCCCATACCCA

intronic

De novo

-

Trost2022 G

PLG

2-1169-004

chr6:
161149422-161149423

CC

TTGTTAAGGA

intronic

De novo

-

Trost2022 G

PLG

1-0150-004

chr6:
161149302-161149312

TACTAAAAAAC

GCCCATACCCA

intronic

De novo

-

Trost2022 G

PLG

AU2293302

chr6:
161371353-161371353

G

A

intergenic

De novo

-

Yuen2017 G

PLG

AU4392302

chr6:
161172706-161172706

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLG

1-0763-004

chr6:
161149302-161149312

TACTAAAAAAC

GCCCATACCCA

intronic

De novo

-

Trost2022 G

PLG

AU3907302

chr6:
161378224-161378224

G

T

intergenic

De novo

-

Yuen2017 G

PLG

3-0515-000

chr6:
161149302-161149312

TACTAAAAAAC

GCCCATACCCA

intronic

De novo

-

Trost2022 G

PLG

5-0041-003

chr6:
161269902-161269902

A

G

intergenic

De novo

-

Yuen2017 G

PLG

2-1723-003

chr6:
161149302-161149312

TACTAAAAAAC

GCCCATACCCA

intronic

De novo

-

Trost2022 G

PLG

SP0010938

chr6:
161132614-161132614

G

T

UTR3

De novo

-

Trost2022 G

PLG

MSSNG00355-003

chr6:
161137143-161137143

T

C

intronic

De novo

-

Trost2022 G

PLG

1-0289-003

chr6:
161149422-161149425

CCAG

TTGTT

intronic

De novo

-

Trost2022 G

PLG

14370.p1

chr6:
161157224-161157224

A

G

intronic

De novo

-

Turner2016 G

PLG

AU2320301

chr6:
161163136-161163136

T

C

intronic

De novo

-

Trost2022 G

PLG

1-0158-012

chr6:
161149422-161149425

CCAG

TTGTT

intronic

De novo

-

Trost2022 G

PLG

2-1548-003

chr6:
161149422-161149425

CCAG

TTGTT

intronic

De novo

-

Trost2022 G

PLG

11002.p1

chr6:
161393816-161393816

G

A

intergenic

De novo

-

Turner2016 G

PLG

5-0014-003

chr6:
161198271-161198271

C

G

intergenic

De novo

-

Yuen2017 G

PLG

AU4219302

chr6:
161405533-161405533

C

G

intergenic

De novo

-

Yuen2017 G

PLG

2-0713-003

chr6:
161224744-161224744

A

T

intergenic

De novo

-

Yuen2017 G

PLG

AU031204

chr6:
161214203-161214203

G

T

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
	More