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Results for "ASTN1"

Variant Events: 18

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
ASTN1     1-0175-003chr1:
176880337-176880337
CTintronicDe novo--Yuen2017 G
ASTN1     1-0175-004chr1:
176880337-176880337
CTintronicDe novo--Yuen2017 G
ASTN1     AU4327303chr1:
176886524-176886524
TGintronicDe novo--Yuen2017 G
ASTN1     2-0214-004chr1:
176876697-176876697
CAintronicDe novo--Yuen2017 G
ASTN1     2-0006-003chr1:
176929198-176929198
CAintronicDe novo--Yuen2017 G
ASTN1     13405.p1chr1:
177057420-177057420
CGintronicMosaic--Dou2017 E
ASTN1     5-0021-003chr1:
177129910-177129910
CTintronicDe novo--Yuen2017 G
ASTN1     7-0219-003chr1:
176994259-176994259
GAintronicDe novo--Yuen2017 G
ASTN1     iHART2300chr1:
176984004-176984004
GCexonicDe novononsynonymous SNVNM_001286164
NM_004319
NM_207108
c.C1446G
c.C1446G
c.C1446G
p.C482W
p.C482W
p.C482W
17.12-Ruzzo2019 G
ASTN1     1-1004-003chr1:
177004481-177004481
AGintronicDe novo--Yuen2017 G
ASTN1     11544.p1chr1:
177046214-177046214
TCintronicDe novo--Wilfert2021 G
ASTN1     5-0083-003chr1:
176906574-176906574
GAintronicDe novo--Yuen2017 G
ASTN1     AU065807chr1:
177137851-177137851
GAintergenicDe novo--Yuen2017 G
ASTN1     AU1223303chr1:
177022955-177022955
GAintronicDe novo--Yuen2017 G
ASTN1     AU3849302chr1:
176888163-176888163
TCintronicDe novo--Yuen2017 G
ASTN1     1-0636-003chr1:
176952899-176952899
CAintronicDe novo--Yuen2017 G
ASTN1     2-1605-004chr1:
177028972-177028973
TATintronicDe novo--Yuen2017 G
ASTN1     1-0067-004chr1:
177042035-177042035
CTintronicDe 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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