or
or
Exact

Results for "SUPT16H"

Variant Events: 9

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
SUPT16H     11089.p1chr14:
21828671-21828671
CTexonicDe novononsynonymous SNVNM_007192c.G2078Ap.R693Q36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Turner2016 G
Turner2017 G
SUPT16H     211-5200-3chr14:
21830474-21830478
TACTTTexonicInheritedframeshift deletionNM_007192c.1671_1674delp.I557fs--Stessman2017 T
SUPT16H     1-0226-005chr14:
21852677-21852677
AGdownstream;upstreamDe novo--Yuen2017 G
SUPT16H     SSC02645chr14:
21828671-21828671
CTexonicDe novononsynonymous SNVNM_007192c.G2078Ap.R693Q36.0-Lim2017 E
SUPT16H     Mahjani2021:9chr14:
21834667-21834667
TCexonicnonsynonymous SNVNM_007192c.A977Gp.Y326C18.0-Mahjani2021 E
SUPT16H     03C16160chr14:
21834599-21834599
CGexonicUnknownnonsynonymous SNVNM_007192c.G1045Cp.G349R29.9-Stessman2017 T
SUPT16H     AU3053301chr14:
21843371-21843371
CTintronicDe novo--Yuen2017 G
SUPT16H     A26chr14:
21847464-21847464
ACintronicDe novo--Wu2018 G
SUPT16H     08C76787chr14:
21840833-21840833
GAintronicDe novo--Satterstrom2020 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