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Results for "MTOR"

Variant Events: 12

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
MTOR     Mahjani2021:38 Complex Event; expand row to view variants  stopgain, nonsynonymous SNVNM_004958
NM_004958
c.C6667T
c.A6668T
p.Q2223X
p.Q2223L
48.0-Mahjani2021 E
Mahjani2021 E
MTOR     5-0147-003chr1:
11190050-11190050
TCintronicDe novo--Yuen2017 G
MTOR     1-0683-004chr1:
11243412-11243414
ACTAintronicDe novo--Yuen2017 G
MTOR     2-1434-003chr1:
11225106-11225106
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MTOR     7-0008-003chr1:
11184585-11184585
TCexonicDe novononsynonymous SNVNM_004958c.A6632Gp.N2211S17.53-Yuen2017 G
MTOR     2-1276-003chr1:
11195322-11195322
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MTOR     11104.p1chr1:
11205057-11205057
TCexonicDe novononsynonymous SNVNM_004958c.A4732Gp.M1578V15.88-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MTOR     JASD_Fam0033chr1:
11316137-11316137
CTexonicDe novononsynonymous SNVNM_004958c.G617Ap.R206H20.2-Takata2018 E
MTOR     7-0222-003chr1:
11258078-11258078
CTintronicDe novo--Yuen2017 G
MTOR     5-0030-003chr1:
11261333-11261339
GATAACAGintronicDe novo--Yuen2017 G
MTOR     2-0182-003chr1:
11288116-11288116
GAintronicDe novo--Yuen2017 G
MTOR     iHART1624chr1:
11187739-11187739
GAexonicDe novononsynonymous SNVNM_004958c.C6158Tp.P2053L29.9-Ruzzo2019 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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