or
or
Exact

Results for "MED20"

Variant Events: 7

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
MED20     SP0029269chr6:
41877252-41877252
CTexonicDe novononsynonymous SNVNM_001305457
NM_004275
c.G178A
c.G178A
p.G60R
p.G60R
20.9-Fu2022 E
Trost2022 G
Zhou2022 GE
MED20     SP0089660chr6:
41884631-41884631
CTexonicDe novononsynonymous SNVNM_001305457
NM_004275
c.G61A
c.G61A
p.V21I
p.V21I
13.752.471E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MED20     SSC05532chr6:
41877253-41877253
GAexonicDe novosynonymous SNVNM_001305457
NM_004275
c.C177T
c.C177T
p.T59T
p.T59T
-5.789E-5Fu2022 E
Trost2022 G
MED20     12505.p1chr6:
41877253-41877253
GAexonicDe novosynonymous SNVNM_001305457
NM_004275
c.C177T
c.C177T
p.T59T
p.T59T
-5.789E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
MED20     SP0083589chr6:
41884699-41884699
CTintronicDe novo--Fu2022 E
Trost2022 G
MED20     PN400565chr6:
41884544-41884544
CTexonicDe novononsynonymous SNVNM_001305457
NM_004275
c.G148A
c.G148A
p.A50T
p.A50T
8.897.0E-4Leblond2019 E
MED20     SP0016344chr6:
41884764-41884764
ACintronicDe novo--Fu2022 E
Source Variant Information

, -

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
More