Variant Results

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Results for "EMILIN3"

Variant Events: 12

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

EMILIN3

200675280@1082034420

chr20:
39991214-39991214

A

G

exonic

De novo

nonsynonymous SNV

NM_052846

c.T995C

p.L332P

14.15

-

Satterstrom2020 E

EMILIN3

AU3874301

chr20:
39989256-39989256

G

A

UTR3

De novo

-

-

Yuen2017 G

EMILIN3

AU4152303

chr20:
40014267-40014302

TATTATTATTATTATTATCATTATTATTATTATTAT

TATTATTATTATTATTAT

intergenic

De novo

-

-

Yuen2017 G

EMILIN3

2-1318-004

chr20:
40025652-40025652

C

G

intergenic

De novo

-

-

Yuen2017 G

EMILIN3

SP0099824

chr20:
39990961-39990961

G

A

exonic

De novo

synonymous SNV

NM_052846

c.C1248T

p.A416A

-

Fu2022 E

EMILIN3

SP0138210

chr20:
39990088-39990088

G

A

exonic

De novo

synonymous SNV

NM_052846

c.C2121T

p.A707A

-

-

Fu2022 E

EMILIN3

AU3617302

chr20:
40014315-40014315

G

C

intergenic

De novo

-

-

Yuen2017 G

EMILIN3

AU038204

chr20:
40010665-40010665

T

C

intergenic

De novo

-

-

Yuen2017 G

EMILIN3

200675280_1082034420

chr20:
39991214-39991214

A

G

exonic

De novo

nonsynonymous SNV

NM_052846

c.T995C

p.L332P

14.15

-

Fu2022 E

EMILIN3

08C72662

chr20:
39992520-39992520

G

A

intronic

De novo

-

-

Satterstrom2020 E

EMILIN3

AU3368303

chr20:
40010671-40010671

C

T

intergenic

De novo

-

-

Yuen2017 G

EMILIN3

Chen2017:5

chr20:
39991214-39991214

A

G

exonic

De novo

nonsynonymous SNV

NM_052846

c.T995C

p.L332P

14.15

-

Chen2017 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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