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Results for "RNMT"

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
RNMT     UK10K_SKUSE5080246chr18:
13746286-13746286
AGexonicDe novononsynonymous SNVNM_001308263
NM_003799
c.A1207G
c.A1207G
p.I403V
p.I403V
10.76-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RNMT     AU4154303chr18:
13749926-13749926
TAintronicDe novo--Yuen2017 G
RNMT     3-0169-000chr18:
13770309-13770309
CTintergenicDe novo--Yuen2016 G
RNMT     AU4013302chr18:
13781205-13781205
AGintergenicDe novo--Yuen2017 G
RNMT     2-0006-003chr18:
13797010-13797010
AGintergenicDe novo--Yuen2017 G
RNMT     12001.p1chr18:
13770892-13770893
CACintergenicDe novo--Werling2018 G
RNMT     AU4327303chr18:
13810863-13810863
GTintergenicDe novo--Yuen2017 G
RNMT     14153.p1chr18:
13779951-13779951
AGintergenicDe novo--Turner2016 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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