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Results for "MEPCE"

Variant Events: 4

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
MEPCE     2-1213-003chr7:
100031650-100031650
CTUTR3De novo--Yuen2017 G
MEPCE     SP0062776chr7:
100030649-100030649
CTexonicDe novosynonymous SNVNM_019606
NM_001194990
NM_001194991
NM_001194992
c.C1779T
c.C372T
c.C372T
c.C372T
p.D593D
p.D124D
p.D124D
p.D124D
-1.65E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MEPCE     SMHC01562s000chr7:
100031137-100031137
CGexonicDe novononsynonymous SNVNM_019606
NM_001194990
NM_001194991
NM_001194992
c.C2030G
c.C623G
c.C623G
c.C623G
p.P677R
p.P208R
p.P208R
p.P208R
20.4-Yuan2023 E
MEPCE     SP0033661chr7:
100028144-100028144
AGexonicDe novononsynonymous SNVNM_019606c.A503Gp.K168R21.79.39E-6Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
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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