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Results for "MICALCL"

Variant Events: 13

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     1-0336-003chr11:
12392421-12392421
TAintergenicDe novo--Yuen2017 G
MICALCL     AU0636303chr11:
12370372-12370372
GAintronicDe novo--Yuen2017 G
MICALCL     7-0102-003chr11:
12390547-12390547
AGintergenicDe novo--Yuen2017 G
MICALCL     2-1140-003chr11:
12348705-12348705
ATintronicDe novo--Yuen2017 G
MICALCL     2-1276-003chr11:
12316171-12316171
CCAexonicDe novoframeshift insertionNM_032867c.1193_1194insAp.S398fs-7.0E-4Jiang2013 G
MICALCL     09C81990chr11:
12348705-12348705
ATintronicDe novo--Satterstrom2020 E
MICALCL     09C98146chr11:
12371396-12371396
CGexonicDe novononsynonymous SNVNM_032867c.C1741Gp.Q581E17.13-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MICALCL     5069_202_childchr11:
12371396-12371396
CGexonicDe novononsynonymous SNVNM_032867c.C1741Gp.Q581E17.13-Neale2012 E
MICALCL     1-0338-003chr11:
12392421-12392421
TAintergenicDe novo--Yuen2017 G
MICALCL     A32chr11:
12370523-12370523
GAintronicDe novo--Wu2018 G
MICALCL     1-0965-003chr11:
12320325-12320325
ACintronicDe novo--Yuen2017 G
MICALCL     1-0052-003chr11:
12323912-12323912
GGTAintronicDe novo--Yuen2017 G
MICALCL     1-0551-004chr11:
12392425-12392425
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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