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Results for "MED26"

Variant Events: 11

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
MED26     A8chr19:
16687313-16687313
AGexonicDe novononsynonymous SNVNM_004831c.T1328Cp.V443A4.743-Wu2018 G
MED26     1-0175-003chr19:
16745175-16745175
CTintergenicDe novo--Yuen2017 G
MED26     7-0103-003chr19:
16743651-16743651
GAintergenicDe novo--Yuen2017 G
MED26     AU3716302chr19:
16736217-16736217
AGintronicDe novo--Yuen2017 G
MED26     1-0175-004chr19:
16745175-16745175
CTintergenicDe novo--Yuen2017 G
MED26     A17chr19:
16750212-16750212
CTintergenicDe novo--Wu2018 G
MED26     2-1327-004chr19:
16687743-16687743
GTexonicDe novononsynonymous SNVNM_004831c.C898Ap.P300T12.9-Yuen2017 G
MED26     2-1526-003chr19:
16689256-16689259
CCTTCintronicDe novo--Yuen2017 G
MED26     Li2017:20121chr19:
16686990-16686990
CGexonicUnknownnonsynonymous SNVNM_004831c.G1651Cp.D551H20.94.955E-5Li2017 T
MED26     14661.p1chr19:
16687978-16687978
GTexonicDe novosynonymous SNVNM_004831c.C663Ap.I221I--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MED26     AU066818chr19:
16728238-16728238
GCintronicDe 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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