or
or
Exact

Results for "AFAP1L1"

Variant Events: 8

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
AFAP1L1     iHART1897chr5:
148697447-148697447
CTexonicPaternalstopgainNM_001146337
NM_152406
c.C1423T
c.C1423T
p.R475X
p.R475X
40.0-Ruzzo2019 G
AFAP1L1     1-0495-003chr5:
148655030-148655046
CTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTintronicDe novo--Yuen2017 G
AFAP1L1     SSC06985chr5:
148699277-148699277
CTexonicDe novononsynonymous SNVNM_001146337
NM_152406
c.C1612T
c.C1612T
p.R538C
p.R538C
21.61.739E-5Lim2017 E
AFAP1L1     1-0569-003chr5:
148683248-148683263
AACACACACACACACAAACACACACACACAintronicDe novo--Yuen2017 G
AFAP1L1     AU3053301chr5:
148661726-148661726
CTintronicDe novo--Yuen2017 G
AFAP1L1     13187.p1chr5:
148699277-148699277
CTexonicDe novononsynonymous SNVNM_001146337
NM_152406
c.C1612T
c.C1612T
p.R538C
p.R538C
21.61.739E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
AFAP1L1     AU2108302chr5:
148650921-148650921
CGupstreamDe novo--Yuen2017 G
AFAP1L1     1-0299-003chr5:
148681997-148681997
CCAexonicDe novoframeshift insertionNM_001146337
NM_152406
c.345dupA
c.345dupA
p.P115fs
p.P115fs
--Yuen2017 G
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