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Results for "MTMR3"

Variant Events: 8

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
MTMR3     1-0973-003chr22:
30367904-30367904
GAintronicDe novo--Yuen2017 G
MTMR3     14011.p1chr22:
30409469-30409469
ATexonicDe novononsynonymous SNVNM_021090
NM_153050
NM_153051
c.A1442T
c.A1442T
c.A1442T
p.D481V
p.D481V
p.D481V
27.89.886E-5Ji2016 E
Krumm2015 E
MTMR3     AU062204chr22:
30388335-30388335
CTintronicDe novo--Yuen2017 G
MTMR3     iHART1643chr22:
30353078-30353078
GCsplicingPaternalsplicing--Ruzzo2019 G
MTMR3     1-0745-003chr22:
30397358-30397358
CTintronicDe novo--Yuen2017 G
MTMR3     5-0065-003chr22:
30405112-30405112
CTexonicDe novononsynonymous SNVNM_021090
NM_153050
NM_153051
c.C1115T
c.C1115T
c.C1115T
p.P372L
p.P372L
p.P372L
24.4-Yuen2017 G
MTMR3     AU2162302chr22:
30292607-30292607
AGintronicDe novo--Yuen2017 G
MTMR3     2-1093-005chr22:
30327599-30327599
CTintronicDe 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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