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Results for "MTMR6"

Variant Events: 15

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
MTMR6     mAGRE5386chr13:
25840266-25840266
CGsplicingMaternalsplicing17.328.421E-6Cirnigliaro2023 G
MTMR6     mAGRE5385chr13:
25840266-25840266
CGsplicingMaternalsplicing17.328.421E-6Cirnigliaro2023 G
MTMR6     1-0245-006chr13:
25861366-25861366
GAexonicnonsynonymous SNVNM_004685c.C20Tp.T7I16.14-Zhou2022 GE
MTMR6     SSC06069chr13:
25823559-25823559
AGexonicDe novosynonymous SNVNM_004685c.T1677Cp.P559P--Fu2022 E
Lim2017 E
Trost2022 G
MTMR6     ASDFI_1540chr13:
25823414-25823414
CAexonicDe novononsynonymous SNVNM_004685c.G1822Tp.A608S12.5-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MTMR6     08C77057chr13:
25840058-25840058
AGexonicDe novononsynonymous SNVNM_004685c.T490Cp.Y164H21.1-Fu2022 E
MTMR6     C239803chr13:
25841950-25841953
TATCTexonicDe novononframeshift deletionNM_004685c.268_270delp.90_90del--Fu2022 E
MTMR6     DEASD_2151_001chr13:
25840374-25840374
AGexonicDe novononsynonymous SNVNM_004685c.T355Cp.S119P12.34-Fu2022 E
MTMR6     AU4239301chr13:
25837694-25837694
GAintronicDe novo--Trost2022 G
Yuen2017 G
MTMR6     12723.p1chr13:
25823559-25823559
AGexonicDe novosynonymous SNVNM_004685c.T1677Cp.P559P--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
MTMR6     Wang2023:451chr13:
25840278-25840278
GAexonicDe novononsynonymous SNVNM_004685c.C451Tp.R151W17.221.672E-5Wang2023 E
MTMR6     1-0286-004chr13:
25838824-25838824
TCintronicDe novo--Trost2022 G
MTMR6     MSSNG00243-003chr13:
25822134-25822134
AGUTR3De novo--Trost2022 G
MTMR6     SSC11525chr13:
25823366-25823366
GAUTR3De novo--Trost2022 G
MTMR6     14315.p1chr13:
25823366-25823366
GAUTR3De novo--Krumm2015 E
Satterstrom2020 E
Source Variant Information

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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
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