Variant Results

or

Results for "PLIN4"

Variant Events: 19

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

PLIN4

AU098A

chr19:
4511513-4511513

G

A

exonic

De novo

nonsynonymous SNV

NM_001080400

c.C2417T

p.T806M

12.14

3.437E-5

Satterstrom2020 E

PLIN4

iHART1448

chr19:
4512816-4512816

G

A

exonic

Paternal

stopgain

NM_001080400

c.C1114T

p.Q372X

21.4

6.0E-4

Ruzzo2019 G

PLIN4

iHART2136

chr19:
4511414-4511415

GT

G

exonic

Maternal

frameshift deletion

NM_001080400

c.2515delA

p.T839fs

-

8.423E-6

Ruzzo2019 G

PLIN4

SSC06773

chr19:
4511502-4511502

C

T

exonic

De novo

nonsynonymous SNV

NM_001080400

c.G2428A

p.V810M

11.15

5.0E-4

Fu2022 E

PLIN4

iHART1891

chr19:
4510908-4510908

C

T

exonic

De novo

nonsynonymous SNV

NM_001080400

c.G3022A

p.V1008M

11.67

-

Ruzzo2019 G

PLIN4

iHART2458

chr19:
4504914-4504914

G

A

exonic

Paternal

stopgain

NM_001080400

c.C3706T

p.Q1236X

38.0

7.61E-5

Ruzzo2019 G

PLIN4

Shi2013:2

chr19:
4504602-4504602

G

A

exonic

Inherited

nonsynonymous SNV

NM_001080400

c.C3943T

p.R1315W

10.42

5.0E-4

Shi2013 G

PLIN4

SP0022171

chr19:
4511436-4511437

CA

C

exonic

De novo

frameshift deletion

NM_001080400

c.2493delT

p.G831fs

-

Fu2022 E

PLIN4

CC1131.202

chr19:
4512657-4512657

C

CA

exonic

De novo

frameshift insertion

NM_001080400

c.1272dupT

p.G425fs

-

Satterstrom2020 E

PLIN4

Shi2013:1

chr19:
4504602-4504602

G

A

exonic

Inherited

nonsynonymous SNV

NM_001080400

c.C3943T

p.R1315W

10.42

5.0E-4

Shi2013 G

PLIN4

1-0579-003

chr19:
4504009-4504009

C

T

UTR3

De novo

-

Yuen2017 G

PLIN4

13898.p1

chr19:
4511908-4511908

C

CTACACCCGTCTGGACGGCCCCCTTGGCCACGTTCGCAGCACCGGTGACCCCACTGCAGACGGTGTCCTTGGTGCCGGTCAGCACGGTCTTGGCT

exonic

De novo

frameshift insertion

NM_001080400

c.2021_2022insAGCCAAGACCGTGCTGACCGGCACCAAGGACACCGTCTGCAGTGGGGTCACCGGTGCTGCGAACGTGGCCAAGGGGGCCGTCCAGACGGGTGTA

p.T674fs

-

Satterstrom2020 E

PLIN4

09C80113

chr19:
4510966-4510966

G

A

exonic

De novo

synonymous SNV

NM_001080400

c.C2964T

p.T988T

-

0.0033

DeRubeis2014 E
Kosmicki2017 E

PLIN4

DEASD_0197_001

chr19:
4512088-4512088

G

A

exonic

De novo

synonymous SNV

NM_001080400

c.C1842T

p.T614T

-

8.283E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PLIN4

9480-1

chr19:
4511749-4511749

C

T

exonic

De novo

synonymous SNV

NM_001080400

c.G2181A

p.A727A

-

9.353E-5

Fu2022 E

PLIN4

SP0040903

chr19:
4512434-4512434

G

C

exonic

De novo

nonsynonymous SNV

NM_001080400

c.C1496G

p.A499G

14.37

-

Fu2022 E

PLIN4

SP0147239

chr19:
4510854-4510854

C

T

exonic

De novo

nonsynonymous SNV

NM_001080400

c.G3076A

p.V1026M

10.36

8.354E-6

Fu2022 E

PLIN4

13706.p1

chr19:
4512926-4512926

T

C

exonic

De novo

nonsynonymous SNV

NM_001080400

c.A1004G

p.K335R

17.61

7.165E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E

PLIN4

SP0069486

chr19:
4512723-4512723

C

T

exonic

De novo

nonsynonymous SNV

NM_001080400

c.G1207A

p.A403T

11.26

-

Fu2022 E

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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