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Results for "MTMR12"

Variant Events: 25

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     2-0102-004chr5:
32300804-32300804
TTCAGintronicDe novo--Yuen2017 G
MTMR12     2-1425-004chr5:
32338554-32338554
ATintergenicDe novo--Yuen2017 G
MTMR12     1-0551-004chr5:
32314799-32314799
TCintergenicDe novo--Yuen2017 G
MTMR12     AU4483301chr5:
32283776-32283776
CTintronicDe novo--Trost2022 G
Yuen2017 G
MTMR12     3-0216-000chr5:
32318060-32318060
CTintergenicDe novo--Yuen2017 G
MTMR12     7-0140-003chr5:
32331166-32331166
AGintergenicDe novo--Yuen2017 G
MTMR12     2-1417-003chr5:
32316115-32316115
GAintergenicDe novo--Yuen2017 G
MTMR12     SP0032645chr5:
32312992-32312992
CGUTR5De novo--Fu2022 E
MTMR12     SP0031513chr5:
32248937-32248937
TCexonicDe novosynonymous SNVNM_001040446
NM_001294343
NM_001294344
c.A837G
c.A837G
c.A837G
p.S279S
p.S279S
p.S279S
--Fu2022 E
Trost2022 G
Zhou2022 GE
MTMR12     AU023012chr5:
32239255-32239255
CTexonicDe novononsynonymous SNVNM_001040446
NM_001294343
NM_001294344
c.G1196A
c.G1196A
c.G1196A
p.C399Y
p.C399Y
p.C399Y
26.8-Trost2022 G
Zhou2022 GE
MTMR12     SP0055914chr5:
32243603-32243603
GTintronicDe novo--Fu2022 E
MTMR12     SSC06266chr5:
32263370-32263370
GCintronicDe novo--Trost2022 G
MTMR12     5-0049-003chr5:
32296122-32296122
GAintronicDe novo--Trost2022 G
MTMR12     1-1000-003chr5:
32342373-32342373
TCintergenicDe novo--Yuen2017 G
MTMR12     MSSNG00394-003chr5:
32243304-32243304
TCintronicDe novo--Trost2022 G
MTMR12     MSSNG00218-003chr5:
32256900-32256900
ACintronicDe novo--Trost2022 G
MTMR12     2-0126-004chr5:
32232055-32232056
ATCAintronicDe novo--Trost2022 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
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Willsey2013 E
Zhou2022 GE
MTMR12     2-0103-003chr5:
32232434-32232434
CAintronicDe novo--Trost2022 G
MTMR12     2-0126-004chr5:
32232045-32232051
GAGGTAAACTAAGintronicDe novo--Trost2022 G
MTMR12     2-1085-004chr5:
32300804-32300804
TTCAGintronicDe novo--Yuen2017 G
MTMR12     1-0838-003chr5:
32305934-32305934
GAintronicDe novo--Trost2022 G
MTMR12     5-0049-003chr5:
32298855-32298855
TCintronicDe novo--Trost2022 G
MTMR12     12957.p1chr5:
32263370-32263370
GCintronicDe novo--Krumm2015 E
Satterstrom2020 E
MTMR12     MSSNG00165-003chr5:
32304202-32304202
CTintronicDe novo--Trost2022 G
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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