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Results for "AFAP1L2"

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
AFAP1L2     11471.p1chr10:
116082909-116082909
GCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
AFAP1L2     14386.p1chr10:
116164208-116164208
GTexonicDe novosynonymous SNVNM_001001936
NM_001287824
NM_032550
c.C7A
c.C7A
c.C7A
p.R3R
p.R3R
p.R3R
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
AFAP1L2     AU003406chr10:
116083131-116083131
TCintronicDe novo--Yuen2017 G
AFAP1L2     Lim2017:36154chr10:
116164208-116164208
GTexonicDe novosynonymous SNVNM_001001936
NM_001287824
NM_032550
c.C7A
c.C7A
c.C7A
p.R3R
p.R3R
p.R3R
--Lim2017 E
AFAP1L2     iHART2971chr10:
116056978-116056978
CGsplicingPaternalsplicing18.63-Ruzzo2019 G
AFAP1L2     5-0133-003chr10:
116109569-116109569
GAintronicDe novo--Yuen2017 G
AFAP1L2     12529.p1chr10:
116080534-116080534
GAintronicDe novo--Werling2018 G
AFAP1L2     iHART2972chr10:
116056978-116056978
CGsplicingPaternalsplicing18.63-Ruzzo2019 G
AFAP1L2     iHART2973chr10:
116056978-116056978
CGsplicingPaternalsplicing18.63-Ruzzo2019 G
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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