Variant Results

or

or

Results for "SMYD1"

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

SMYD1

11416.p1

chr2:
88396133-88396133

G

T

exonic

De novo

nonsynonymous SNV

NM_198274

c.G718T

p.G240C

14.37

-

Satterstrom2020 E

SMYD1

1-0330-004

chr2:
88414602-88414602

G

A

intergenic

De novo

-

-

Yuen2017 G

SMYD1

AU051503

chr2:
88397688-88397688

C

T

intronic

De novo

-

-

Yuen2017 G

SMYD1

Lim2017:68760

chr2:
88409886-88409886

A

G

exonic

De novo

nonsynonymous SNV

NM_198274

c.A1328G

p.Q443R

24.6

-

Lim2017 E

SMYD1

AU2318301

chr2:
88375583-88375583

G

C

intronic

De novo

-

-

Trost2022 G

SMYD1

SP0229324

chr2:
88390585-88390585

G

A

exonic

De novo

nonsynonymous SNV

NM_198274

c.G583A

p.V195I

22.1

Trost2022 G

SMYD1

10C105976

chr2:
88383785-88383785

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SMYD1

13381.p1

chr2:
88409886-88409886

A

G

exonic

De novo

nonsynonymous SNV

NM_198274

c.A1328G

p.Q443R

24.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SMYD1

1311011

chr2:
88407960-88407960

G

T

exonic

De novo

nonsynonymous SNV

NM_198274

c.G1216T

p.A406S

25.1

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMYD1

AU3725302

chr2:
88387190-88387190

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SMYD1

3-0339-000

chr2:
88403974-88403974

G

T

intronic

De novo

-

-

Trost2022 G

SMYD1

7-0346-003

chr2:
88413310-88413310

A

G

downstream

De novo

-

-

Trost2022 G

SMYD1

REACH000189

chr2:
88392669-88392669

C

T

intronic

De novo

-

-

Trost2022 G

SMYD1

SSC00153

chr2:
88396133-88396133

G

T

exonic

De novo

nonsynonymous SNV

NM_198274

c.G718T

p.G240C

14.37

-

Trost2022 G

SMYD1

68760

chr2:
88409886-88409886

A

G

exonic

De novo

nonsynonymous SNV

NM_198274

c.A1328G

p.Q443R

24.6

-

Fu2022 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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