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Results for "MTMR9"

Variant Events: 22

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
MTMR9     12534.p1chr8:
11172535-11172535
CAexonicMosaic, De novononsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
MTMR9     AU021204chr8:
11167535-11167541
ATTTTTTATTTTTTTintronicDe novo--Yuen2017 G
MTMR9     PN400474chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400477chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400178chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400252chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400484chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400393chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400386chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400431chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400514chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400546chr8:
11172536-11172536
GCexonicInherited, Unknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
Leblond2019 E
MTMR9     PN400407chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400534chr8:
11172536-11172536
GCexonicInherited, Unknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
Leblond2019 E
MTMR9     2-0003-004chr8:
11154712-11154712
AGintronicDe novo--Yuen2017 G
MTMR9     1-0494-003chr8:
11159640-11159640
TGintronicDe novo--Yuen2017 G
MTMR9     1-0494-003Achr8:
11159640-11159640
TGintronicDe novo--Yuen2017 G
MTMR9     2-1279-003chr8:
11185606-11185606
AGUTR3De novo--Yuen2016 G
Yuen2017 G
MTMR9     PN400352chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400124chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400186chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
MTMR9     PN400548chr8:
11172536-11172536
GCexonicUnknownnonsynonymous SNVNM_015458c.G1076Cp.R359P20.70.0031Leblond2019 E
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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