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Results for "CHMP1A"

Variant Events: 6

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
CHMP1A     3-0458-000Achr16:
89718091-89718091
GAintronicDe novo-0.0039Yuen2017 G
CHMP1A     DEASD_0301_001chr16:
89715851-89715851
GAexonicDe novononsynonymous SNVNM_001083314
NM_002768
c.C140T
c.C160T
p.P47L
p.R54C
19.371.0E-4DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CHMP1A     3-0458-000Bchr16:
89718091-89718091
GAintronicDe novo-0.0039Yuen2017 G
CHMP1A     Li2017:27806chr16:
89715864-89715864
GAexonicUnknownstopgainNM_001083314c.C127Tp.R43X24.32.0E-4Li2017 T
CHMP1A     SSC11602chr16:
89715809-89715809
GAexonicDe novononsynonymous SNVNM_001083314
NM_002768
c.C182T
c.C202T
p.P61L
p.R68C
23.41.662E-5Lim2017 E
CHMP1A     14437.p1chr16:
89715809-89715809
GAexonicDe novononsynonymous SNVNM_001083314
NM_002768
c.C182T
c.C202T
p.P61L
p.R68C
23.41.662E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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