Variant Results

or

Results for "SMYD3"

Variant Events: 43

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

SMYD3

2-1296-003

chr1:
246590079-246590086

TTAACTCT

TT

intronic

De novo

-

Yuen2017 G

SMYD3

SP0127719

chr1:
246670327-246670327

T

A

intronic

De novo

-

Fu2022 E

SMYD3

2-1360-003

chr1:
246419304-246419304

A

T

intronic

De novo

-

Yuen2017 G

SMYD3

2-0299-003

chr1:
246486566-246486566

T

A

intronic

De novo

-

Yuen2017 G

SMYD3

1-0531-003

chr1:
246206759-246206759

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SMYD3

7-0215-003

chr1:
246158300-246158300

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

AU2381302

chr1:
246447494-246447494

A

C

intronic

De novo

-

Yuen2017 G

SMYD3

SP0139217

chr1:
246350237-246350237

C

T

intronic

De novo

-

Fu2022 E

SMYD3

1-0181-004

chr1:
246198802-246198802

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

SP0043383

chr1:
246021750-246021750

A

C

intronic

De novo

-

1.922E-5

Fu2022 E

SMYD3

1-0292-005

chr1:
246230479-246230479

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

2-1353-003

chr1:
246126602-246126602

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SMYD3

AU030804

chr1:
246108404-246108404

C

G

intronic

De novo

-

Yuen2017 G

SMYD3

1-0901-003

chr1:
245961701-245961701

C

CAAAT

intronic

De novo

-

Yuen2017 G

SMYD3

AU072005

chr1:
246515352-246515352

T

C

intronic

De novo

-

Yuen2017 G

SMYD3

iHART1777

chr1:
245927452-245927452

C

A

splicing

Maternal

splicing

18.54

-

Ruzzo2019 G

SMYD3

2-1297-004

chr1:
246264382-246264382

T

TG

intronic

De novo

-

Yuen2017 G

SMYD3

08.s1

chr1:
246021874-246021874

C

T

exonic

De novo

nonsynonymous SNV

NM_001167740
NM_022743

c.G1000A
c.G823A

p.A334T
p.A275T

26.1

3.296E-5

An2014 E

SMYD3

7-0067-003

chr1:
246208804-246208804

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

2-1267-003

chr1:
245961701-245961701

C

CAAAT

intronic

De novo

-

Yuen2017 G

SMYD3

1-1004-003

chr1:
246618499-246618499

G

C

intronic

De novo

-

Yuen2017 G

SMYD3

AU071703

chr1:
246614542-246614542

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

AU1223303

chr1:
246015200-246015200

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

AU3913303

chr1:
246202040-246202040

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

13951.p1

chr1:
246323102-246323102

C

T

intronic

De novo

-

Turner2016 G

SMYD3

2-0214-004

chr1:
246395085-246395085

C

A

intronic

De novo

-

Yuen2017 G

SMYD3

AU072904

chr1:
246561000-246561000

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

AU4015302

chr1:
246222124-246222124

T

G

intronic

De novo

-

Yuen2017 G

SMYD3

AU1640302

chr1:
246300404-246300410

TTTAATT

TTT

intronic

De novo

-

Yuen2017 G

SMYD3

13069.p1

chr1:
246588141-246588141

G

C

intronic

De novo

-

Turner2016 G

SMYD3

11002.p1

chr1:
246401944-246401944

C

T

intronic

De novo

-

Turner2016 G

SMYD3

2-1722-003

chr1:
246516764-246516764

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

13942.p1

chr1:
246548903-246548903

T

G

intronic

De novo

-

Turner2016 G

SMYD3

2-0289-004

chr1:
246458290-246458290

T

C

intronic

De novo

-

Yuen2017 G

SMYD3

1-0986-003

chr1:
246357574-246357574

G

T

intronic

De novo

-

Yuen2017 G

SMYD3

AU4264302

chr1:
246362683-246362683

A

G

intronic

De novo

-

Yuen2017 G

SMYD3

AU3839303

chr1:
246133405-246133405

C

A

intronic

De novo

-

Yuen2017 G

SMYD3

5-0077-003

chr1:
245961701-245961701

C

CAAAT

intronic

De novo

-

Yuen2017 G

SMYD3

AU3839303

chr1:
246133415-246133415

C

T

intronic

De novo

-

Yuen2017 G

SMYD3

1-0051-005

chr1:
246167687-246167687

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

AU3839303

chr1:
246262715-246262715

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

2-1188-003

chr1:
246527087-246527087

G

A

intronic

De novo

-

Yuen2017 G

SMYD3

AU017704

chr1:
245965583-245965583

C

T

intronic

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
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