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Results for "MTMR12"

Variant Events: 11

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
MTMR12     1-0551-004chr5:
32314799-32314799
TCintergenicDe novo--Yuen2017 G
MTMR12     1-1000-003chr5:
32342373-32342373
TCintergenicDe novo--Yuen2017 G
MTMR12     2-0102-004chr5:
32300804-32300804
TTCAGintronicDe novo--Yuen2017 G
MTMR12     09C95788chr5:
32263299-32263299
CTexonicDe novostopgainNM_001040446
NM_001294343
NM_001294344
c.G633A
c.G633A
c.G633A
p.W211X
p.W211X
p.W211X
38.0-DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Willsey2013 E
MTMR12     2-1085-004chr5:
32300804-32300804
TTCAGintronicDe novo--Yuen2017 G
MTMR12     AU4483301chr5:
32283776-32283776
CTintronicDe novo--Yuen2017 G
MTMR12     7-0140-003chr5:
32331166-32331166
AGintergenicDe novo--Yuen2017 G
MTMR12     2-1417-003chr5:
32316115-32316115
GAintergenicDe novo--Yuen2017 G
MTMR12     3-0216-000chr5:
32318060-32318060
CTintergenicDe novo--Yuen2017 G
MTMR12     2-1425-004chr5:
32338554-32338554
ATintergenicDe novo--Yuen2017 G
MTMR12     12957.p1chr5:
32263370-32263370
GCintronicDe novo--Krumm2015 E
Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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