Variant Results

or

Results for "MICALCL"

Variant Events: 14

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

MICALCL

1-0336-003

chr11:
12392421-12392421

T

A

intergenic

De novo

-

Yuen2017 G

MICALCL

AU0636303

chr11:
12370372-12370372

G

A

intronic

De novo

-

Yuen2017 G

MICALCL

7-0102-003

chr11:
12390547-12390547

A

G

intergenic

De novo

-

Yuen2017 G

MICALCL

2-1140-003

chr11:
12348705-12348705

A

T

intronic

De novo

-

Yuen2017 G

MICALCL

2-1276-003

chr11:
12316171-12316171

C

CA

exonic

De novo

frameshift insertion

NM_032867

c.1193_1194insA

p.S398fs

-

7.0E-4

Jiang2013 G

MICALCL

09C81990

chr11:
12348705-12348705

A

T

intronic

De novo

-

Satterstrom2020 E

MICALCL

SP0058405

chr11:
12345693-12345693

G

A

intronic

De novo

-

Fu2022 E

MICALCL

09C98146

chr11:
12371396-12371396

C

G

exonic

De novo

nonsynonymous SNV

NM_032867

c.C1741G

p.Q581E

17.13

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MICALCL

5069_202_child

chr11:
12371396-12371396

C

G

exonic

De novo

nonsynonymous SNV

NM_032867

c.C1741G

p.Q581E

17.13

-

Neale2012 E

MICALCL

1-0338-003

chr11:
12392421-12392421

T

A

intergenic

De novo

-

Yuen2017 G

MICALCL

A32

chr11:
12370523-12370523

G

A

intronic

De novo

-

Wu2018 G

MICALCL

1-0965-003

chr11:
12320325-12320325

A

C

intronic

De novo

-

Yuen2017 G

MICALCL

1-0052-003

chr11:
12323912-12323912

G

GTA

intronic

De novo

-

Yuen2017 G

MICALCL

1-0551-004

chr11:
12392425-12392425

C

T

intergenic

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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