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Results for "APLF"

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
APLF     iHART2478chr2:
68794471-68794471
AGsplicingMaternalsplicing16.264.0E-4Ruzzo2019 G
APLF     2-0219-004chr2:
68781693-68781693
GAintronicDe novo--Yuen2017 G
APLF     2-1505-003chr2:
68770117-68770117
CTintronicDe novo--Yuen2017 G
APLF     11459.p1chr2:
68794512-68794512
GAexonicDe novosynonymous SNVNM_173545c.G1326Ap.T442T-4.242E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
APLF     AU239Achr2:
68794483-68794483
CAexonicDe novononsynonymous SNVNM_173545c.C1297Ap.Q433K22.10.0307DeRubeis2014 E
Kosmicki2017 E
APLF     2-0102-003chr2:
68784563-68784563
TCintronicDe novo--Yuen2017 G
APLF     2-1163-003chr2:
68716152-68716152
TGintronicDe 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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