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Results for "ASTN1"

Variant Events: 42

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     1-0175-004chr1:
176880337-176880337
CTintronicDe novo--Yuen2017 G
ASTN1     AU4327303chr1:
176886524-176886524
TGintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     Wang2023:859chr1:
177133635-177133636
AGAexonicDe novoframeshift deletionNM_001286164
NM_004319
NM_207108
c.177delC
c.177delC
c.177delC
p.P59fs
p.P59fs
p.P59fs
--Wang2023 E
ASTN1     13405.p1chr1:
177057420-177057420
CGintronicMosaic--Dou2017 E
ASTN1     5-0021-003chr1:
177129910-177129910
CTintronicDe novo--Trost2022 G
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     SP0122761chr1:
176863865-176863865
TCexonicDe novononsynonymous SNVNM_001286164
NM_004319
NM_207108
c.A2773G
c.A2773G
c.A2773G
p.M925V
p.M925V
p.M925V
13.396.589E-5Trost2022 G
Zhou2022 GE
ASTN1     1-1004-003chr1:
177004481-177004481
AGintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     SP0103435chr1:
176993744-176993744
AGexonicDe novosynonymous SNVNM_001286164
NM_004319
NM_207108
c.T1245C
c.T1245C
c.T1245C
p.H415H
p.H415H
p.H415H
--Fu2022 E
Trost2022 G
Zhou2022 GE
ASTN1     SP0064914chr1:
176852058-176852058
GAexonicDe novononsynonymous SNVNM_001286164
NM_004319
NM_207108
c.C3299T
c.C3299T
c.C3299T
p.P1100L
p.P1100L
p.P1100L
26.24.119E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ASTN1     SP0063803chr1:
176831123-176831123
GAUTR3De novo--Fu2022 E
Trost2022 G
ASTN1     AU1223303chr1:
177022955-177022955
GAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     AU3849302chr1:
176888163-176888163
TCintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     mAGRE2300chr1:
176984004-176984004
GCexonicDe novononsynonymous SNVNM_001286164
NM_004319
NM_207108
c.C1446G
c.C1446G
c.C1446G
p.C482W
p.C482W
p.C482W
17.12-Cirnigliaro2023 G
ASTN1     1-0636-003chr1:
176952899-176952899
CAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     1-0067-004chr1:
177042035-177042035
CTintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     AU2310301chr1:
176887120-176887120
TCintronicDe novo--Trost2022 G
ASTN1     1-0175-003chr1:
176880337-176880337
CTintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     3-0612-000chr1:
176884725-176884725
GAintronicDe novo--Trost2022 G
ASTN1     4-0077-003chr1:
176909531-176909532
GCTTintronicDe novo--Trost2022 G
ASTN1     3-0526-000chr1:
176890463-176890463
AGintronicDe novo--Trost2022 G
ASTN1     2-0214-004chr1:
176876697-176876697
CAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     4-0062-003chr1:
176883744-176883744
GCintronicDe novo--Trost2022 G
ASTN1     2-0006-003chr1:
176929198-176929198
CAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     SMHC00859s000chr1:
177133635-177133636
AGAexonicDe novoframeshift deletionNM_001286164
NM_004319
NM_207108
c.177delC
c.177delC
c.177delC
p.P59fs
p.P59fs
p.P59fs
--Yuan2023 E
ASTN1     MT_22.3chr1:
177000956-177000956
CTintronicDe novo--Trost2022 G
ASTN1     REACH000150chr1:
176998159-176998159
TGintronicDe novo--Trost2022 G
ASTN1     7-0219-003chr1:
176994259-176994259
GAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     REACH000644chr1:
177055827-177055827
TAintronicDe novo--Trost2022 G
ASTN1     MSSNG00445-003chr1:
177004645-177004645
TCintronicDe novo--Trost2022 G
ASTN1     3-0781-000chr1:
176949977-176949977
ACintronicDe novo--Trost2022 G
ASTN1     MSSNG00417-003chr1:
176937519-176937519
GAintronicDe novo--Trost2022 G
ASTN1     MSSNG00384-003chr1:
176974842-176974842
TAintronicDe novo--Trost2022 G
ASTN1     AUTPGX_1015chr1:
176952141-176952141
AGintronicDe novo--Trost2022 G
ASTN1     11544.p1chr1:
177046214-177046214
TCintronicDe novo--Wilfert2021 G
ASTN1     5-0083-003chr1:
176906574-176906574
GAintronicDe novo--Trost2022 G
Yuen2017 G
ASTN1     AU055603chr1:
177073066-177073066
CGintronicDe novo--Trost2022 G
ASTN1     AU065807chr1:
177137851-177137851
GAintergenicDe novo--Yuen2017 G
ASTN1     5-0009-003chr1:
177062439-177062439
CTintronicDe novo--Trost2022 G
ASTN1     7-0399-003chr1:
177091113-177091113
TCintronicDe novo--Trost2022 G
ASTN1     2-1347-003chr1:
177080670-177080670
CTintronicDe novo--Trost2022 G
ASTN1     2-1605-004chr1:
177028972-177028973
TATintronicDe novo--Trost2022 G
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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