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Results for "MTRR"

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
MTRR     60-2027chr5:
8109424-8109424
CTintergenicDe novo--Michaelson2012 G
MTRR     AU3517301chr5:
8319920-8319920
AGintergenicDe novo--Yuen2017 G
MTRR     1-0121-003chr5:
8250382-8250382
GAintergenicDe novo--Yuen2017 G
MTRR     SP0238416chr5:
7885940-7885940
ACexonicDe novononsynonymous SNVNM_002454
NM_024010
c.A1030C
c.A1111C
p.K344Q
p.K371Q
12.37-Trost2022 G
MTRR     1-0534-004chr5:
7950170-7950170
ACintergenicDe novo--Yuen2017 G
MTRR     AU028305chr5:
7960207-7960207
GAintergenicDe novo--Yuen2017 G
MTRR     1-0435-003chr5:
8241972-8241972
CTintergenicDe novo--Yuen2017 G
MTRR     2-0145-003chr5:
7874193-7874193
CGintronicDe novo--Trost2022 G
Yuen2017 G
MTRR     7-0254-004chr5:
7872896-7872896
AGintronicDe novo--Trost2022 G
Yuen2017 G
MTRR     5-0055-003chr5:
8130611-8130611
CTintergenicDe novo--Yuen2017 G
MTRR     AU4197302chr5:
8302370-8302370
TAintergenicDe novo--Yuen2017 G
MTRR     2-1250-003chr5:
8319820-8319820
GAintergenicDe novo--Yuen2017 G
MTRR     2-1709-003chr5:
8097390-8097390
AGintergenicDe novo--Yuen2017 G
MTRR     AU-20300chr5:
7892937-7892937
AGexonicInheritednonsynonymous SNVNM_002454
NM_024010
c.A1468G
c.A1549G
p.T490A
p.T517A
21.20.0046Yu2013 E
MTRR     AU021204chr5:
8221739-8221739
CTintergenicDe novo--Yuen2017 G
MTRR     A9chr5:
8219097-8219097
CTintergenicDe novo--Wu2018 G
MTRR     1-0041-003chr5:
8094443-8094443
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MTRR     AU4149301chr5:
8078222-8078222
TGintergenicDe novo--Yuen2017 G
MTRR     1-0976-003chr5:
8325561-8325561
AGintergenicDe novo--Yuen2017 G
MTRR     AU4235303chr5:
8081567-8081567
ACintergenicDe novo--Yuen2017 G
MTRR     2-1408-004chr5:
8046480-8046480
ATintergenicDe novo--Yuen2017 G
MTRR     A10chr5:
8037825-8037825
CTintergenicDe novo--Wu2018 G
MTRR     7-0273-003chr5:
8144349-8144349
TCintergenicDe novo--Yuen2017 G
MTRR     AU034903chr5:
8112105-8112105
AGintergenicDe novo--Yuen2017 G
MTRR     2-1741-003chr5:
8210143-8210143
CTintergenicDe 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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