Variant Results

or

Results for "MICAL3"

Variant Events: 61

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

MICAL3

10C105014

chr22:
18387403-18387403

T

C

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.A467G
c.A467G
c.A467G

p.H156R
p.H156R
p.H156R

24.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MICAL3

A13

chr22:
18475295-18475295

T

C

intronic

De novo

-

Wu2018 G

MICAL3

1-0285-003

chr22:
18273122-18273122

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

SP0075050

chr22:
18300676-18300676

A

G

exonic

De novo

nonsynonymous SNV

NM_015241

c.T4751C

p.L1584S

7.047

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MICAL3

2-1694-003

chr22:
18314776-18314776

C

T

exonic

De novo

nonsynonymous SNV

NM_015241

c.G2899A

p.V967M

18.86

3.074E-5

Trost2022 G
Zhou2022 GE

MICAL3

SP0019104

chr22:
18368708-18368708

G

A

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.C2177T
c.C2177T
c.C2177T

p.A726V
p.A726V
p.A726V

36.0

8.342E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

MICAL3

SP0007707

chr22:
18374221-18374221

A

C

intronic

De novo

-

Fu2022 E

MICAL3

1-1037-003

chr22:
18300139-18300139

G

A

exonic

De novo

nonsynonymous SNV

NM_015241

c.C5288T

p.T1763I

13.47

-

Trost2022 G
Zhou2022 GE

MICAL3

SP0311576

chr22:
18347614-18347614

A

G

exonic

nonsynonymous SNV

NM_001136004

c.T3028C

p.C1010R

10.77

-

Zhou2022 GE

MICAL3

SP0070866

chr22:
18343501-18343501

G

T

UTR3

De novo

-

Fu2022 E
Trost2022 G

MICAL3

SP0025612

chr22:
18368810-18368810

G

A

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.C2075T
c.C2075T
c.C2075T

p.A692V
p.A692V
p.A692V

10.94

8.34E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

MICAL3

08C72495

chr22:
18314763-18314763

G

A

exonic

De novo

nonsynonymous SNV

NM_015241

c.C2912T

p.A971V

10.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MICAL3

SP0198178

chr22:
18301420-18301420

C

T

exonic

nonsynonymous SNV

NM_015241

c.G4007A

p.R1336H

17.53

-

Zhou2022 GE

MICAL3

PN400259

chr22:
18300290-18300290

T

A

exonic

Unknown

stopgain

NM_015241

c.A5137T

p.K1713X

49.0

-

Leblond2019 E

MICAL3

152311

chr22:
18378069-18378069

T

C

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.A1430G
c.A1430G
c.A1430G

p.N477S
p.N477S
p.N477S

9.032

1.735E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MICAL3

SP0012890

chr22:
18355516-18355516

T

C

exonic

De novo

synonymous SNV

NM_001136004

c.A2610G

p.E870E

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MICAL3

SP0053485

chr22:
18343559-18343559

C

T

UTR3

De novo

-

Fu2022 E
Trost2022 G

MICAL3

2-1363-003

chr22:
18387403-18387403

T

C

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.A467G
c.A467G
c.A467G

p.H156R
p.H156R
p.H156R

24.7

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

MICAL3

AU2129303

chr22:
18271417-18271417

A

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

1-0024-003

chr22:
18486083-18486083

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MICAL3

1-0871-003

chr22:
18321211-18321211

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

AU003406

chr22:
18486095-18486095

G

A

intronic

De novo

-

Yuen2017 G

MICAL3

AU3634301

chr22:
18498667-18498667

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

5-0140-003

chr22:
18359964-18360134

GGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA

GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA

intronic

De novo

-

Yuen2017 G

MICAL3

AU3885305

chr22:
18441221-18441221

C

A

intronic

De novo

-

Yuen2017 G

MICAL3

PN400457

chr22:
18300290-18300290

T

A

exonic

Unknown

stopgain

NM_015241

c.A5137T

p.K1713X

49.0

-

Leblond2019 E

MICAL3

2-1441-003

chr22:
18294655-18294655

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MICAL3

2-0202-003

chr22:
18394633-18394633

A

AGCTTAGATGAAAAATG

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

2-1237-003

chr22:
18272111-18272111

G

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

MSSNG00140-003

chr22:
18281595-18281595

A

G

intronic

De novo

-

Trost2022 G

MICAL3

5-0088-003

chr22:
18359698-18359698

G

A

intronic

De novo

-

Trost2022 G

MICAL3

AU4263304

chr22:
18341466-18341466

G

T

intronic

De novo

-

Yuen2017 G

MICAL3

5-0103-003

chr22:
18359649-18359649

G

T

intronic

De novo

-

Trost2022 G

MICAL3

5-0095-003

chr22:
18359599-18359599

G

A

intronic

De novo

-

Trost2022 G

MICAL3

2-0215-003

chr22:
18407996-18407996

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

SP0133435

chr22:
18346935-18346935

G

C

UTR3

De novo

-

Trost2022 G

MICAL3

5-0024-003

chr22:
18346413-18346413

T

G

UTR3

De novo

-

Trost2022 G

MICAL3

1-0125-003

chr22:
18304070-18304071

GC

GCC

intronic

De novo

-

Yuen2017 G

MICAL3

SP0156528

chr22:
18343766-18343766

C

T

UTR3

De novo

-

Trost2022 G

MICAL3

1-1047-003

chr22:
18299009-18299013

CCTAA

C

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00140-003

chr22:
18281597-18281597

A

G

intronic

De novo

-

Trost2022 G

MICAL3

AU047703

chr22:
18311700-18311700

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

MSSNG00400-003

chr22:
18379884-18379884

T

C

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00329-004

chr22:
18360342-18360342

G

T

intronic

De novo

-

Trost2022 G

MICAL3

2-1814-003

chr22:
18360259-18360259

T

G

intronic

De novo

-

Trost2022 G

MICAL3

2-1811-003

chr22:
18360148-18360148

G

A

intronic

De novo

-

Trost2022 G

MICAL3

1-1144-003

chr22:
18360088-18360088

T

G

intronic

De novo

-

Trost2022 G

MICAL3

2-1775-003

chr22:
18360016-18360016

T

G

intronic

De novo

-

Trost2022 G

MICAL3

SJD_69.3

chr22:
18359941-18359941

G

A

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00334-003

chr22:
18359748-18359748

G

T

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00222-003

chr22:
18481271-18481271

A

G

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00427-003

chr22:
18476242-18476242

T

C

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00252-003

chr22:
18456523-18456523

C

T

intronic

De novo

-

Trost2022 G

MICAL3

1-1039-003

chr22:
18436757-18436757

G

A

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00466-003

chr22:
18427019-18427019

G

A

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00329-003

chr22:
18405939-18405939

A

T

intronic

De novo

-

Trost2022 G

MICAL3

5-5233-003

chr22:
18393059-18393060

AC

A

intronic

De novo

-

Trost2022 G

MICAL3

MSSNG00041-004

chr22:
18384498-18384498

T

A

intronic

De novo

-

Trost2022 G

MICAL3

2-1620-003

chr22:
18462183-18462183

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MICAL3

AM01ZF-04

chr22:
18507964-18507964

C

T

upstream

De novo

-

Trost2022 G

MICAL3

1027

chr22:
18484433-18484433

C

T

intronic

De novo

-

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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