Variant Results

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Results for "EMILIN2"

Variant Events: 15

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

EMILIN2

2-0018-004

chr18:
2899638-2899638

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EMILIN2

AU026412

chr18:
2871657-2871657

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EMILIN2

Wang2023:307

chr18:
2906967-2906967

G

T

exonic

De novo

nonsynonymous SNV

NM_032048

c.G2546T

p.G849V

18.02

-

Wang2023 E

EMILIN2

SP0110620

chr18:
2891826-2891826

C

T

exonic

De novo

synonymous SNV

NM_032048

c.C1701T

p.A567A

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EMILIN2

5-0019-003

chr18:
2902223-2902223

C

T

intronic

De novo

-

-

Trost2022 G

EMILIN2

iHART1064

chr18:
2890859-2890860

CG

C

exonic

Maternal

frameshift deletion

NM_032048

c.735delG

p.T245fs

-

-

Ruzzo2019 G

EMILIN2

SMHC01582s000

chr18:
2890829-2890829

C

CT

exonic

De novo

frameshift insertion

NM_032048

c.705dupT

p.P235fs

-

-

Yuan2023 E

EMILIN2

MT_160.4

chr18:
2855173-2855173

T

A

intronic

De novo

-

-

Trost2022 G

EMILIN2

13512.p1

chr18:
2892174-2892174

G

A

exonic

De novo

synonymous SNV

NM_032048

c.G2049A

p.S683S

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

EMILIN2

1-0203-004

chr18:
2891697-2891697

G

T

exonic

De novo

synonymous SNV

NM_032048

c.G1572T

p.L524L

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

EMILIN2

2-1228-003

chr18:
2896122-2896135

CATATATATATATA

CATATATATATA

intronic

De novo

-

-

Yuen2017 G

EMILIN2

12795.p1

chr18:
2889243-2889249

TTTCTGT

CTCGTGC

intronic

De novo

-

-

Turner2016 G

EMILIN2

mAGRE1064

chr18:
2890859-2890860

CG

C

exonic

Maternal

frameshift deletion

NM_032048

c.735delG

p.T245fs

-

-

Cirnigliaro2023 G

EMILIN2

1-0372-003

chr18:
2896122-2896135

CATATATATATATA

CATATATATATA

intronic

De novo

-

-

Yuen2017 G

EMILIN2

SSC07687

chr18:
2892174-2892174

G

A

exonic

De novo

synonymous SNV

NM_032048

c.G2049A

p.S683S

-

Fu2022 E
Lim2017 E
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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