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Results for "MED15"

Variant Events: 18

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
MED15     PN400367chr22:
20937201-20937201
CTexonicUnknownnonsynonymous SNVNM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891
c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T
p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V
20.90.002Leblond2019 E
MED15     AU062204chr22:
21010243-21010243
TCintergenicDe novo--Yuen2017 G
MED15     AU062204chr22:
21010247-21010247
TGintergenicDe novo--Yuen2017 G
MED15     1-0032-003chr22:
20934948-20934948
GAintronicDe novo--Yuen2017 G
MED15     2-1086-003chr22:
20987602-20987602
CTintergenicDe novo--Yuen2017 G
MED15     AU3809302chr22:
21018183-21018183
GAintergenicDe novo--Yuen2017 G
MED15     PN400528chr22:
20937201-20937201
CTexonicUnknownnonsynonymous SNVNM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891
c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T
p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V
20.90.002Leblond2019 E
MED15     AU2162302chr22:
20986073-20986073
GAintergenicDe novo--Yuen2017 G
MED15     7-0223-003chr22:
21027859-21027859
ATintergenicDe novo--Yuen2017 G
MED15     1-0414-005chr22:
20864628-20864628
GAintronicDe novo--Yuen2017 G
MED15     1-0627-007chr22:
20881473-20881475
TCCTCintronicDe novo--Yuen2017 G
MED15     PN400557chr22:
20937201-20937201
CTexonicUnknownnonsynonymous SNVNM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891
c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T
p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V
20.90.002Leblond2019 E
MED15     PN400249chr22:
20937201-20937201
CTexonicUnknownnonsynonymous SNVNM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891
c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T
p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V
20.90.002Leblond2019 E
MED15     13946.p1chr22:
20962279-20962279
ACintergenicDe novo--Turner2016 G
MED15     2-1456-003chr22:
20875680-20875680
AGintronicDe novo--Yuen2017 G
MED15     PN400284chr22:
20937201-20937201
CTexonicUnknownnonsynonymous SNVNM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891
c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T
p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V
20.90.002Leblond2019 E
MED15     A14chr22:
20882586-20882586
CTintronicDe novo--Wu2018 G
MED15     14590.p1chr22:
20884459-20884459
GAintronicDe 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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