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Results for "APLP2"

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
APLP2     AU030104chr11:
129960793-129960793
CAintronicDe novo--Yuen2017 G
APLP2     11077.p1chr11:
130011497-130011497
TCintronicDe novo-8.338E-5Satterstrom2020 E
APLP2     AU3703302chr11:
129963071-129963071
AGintronicDe novo--Yuen2017 G
APLP2     3-0107-000chr11:
129996709-129996709
GAexonicDe novononsynonymous SNVNM_001142278
NM_001142277
NM_001142276
NM_001243299
NM_001642
c.G518A
c.G1037A
c.G1205A
c.G1235A
c.G1205A
p.R173H
p.R346H
p.R402H
p.R412H
p.R402H
15.64.118E-5Yuen2015 G
APLP2     11089.p1chr11:
129974139-129974139
CTintronicDe novo--Turner2016 G
APLP2     1-0344-003chr11:
129964799-129964799
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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