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Results for "ATRNL1"

Variant Events: 35

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
ATRNL1     3-0140-000chr10:
117309324-117309324
GTintronicDe novo--Yuen2017 G
ATRNL1     A22chr10:
117055181-117055181
AGintronicDe novo--Wu2018 G
ATRNL1     20574-32342chr10:
116931097-116931101
TTCTCTexonicframeshift deletionNM_001276282c.1396_1399delp.S466fs--Callaghan2019 G
ATRNL1     12656.p1chr10:
117061544-117061544
ACexonicDe novononsynonymous SNVNM_207303c.A2809Cp.T937P18.04.0E-4Satterstrom2020 E
ATRNL1     2-1005-003chr10:
117522057-117522057
CAintronicDe novo--Yuen2017 G
ATRNL1     1-0197-003chr10:
117353902-117353902
TGintronicDe novo--Yuen2017 G
ATRNL1     A2chr10:
117226023-117226023
AGintronicDe novo--Wu2018 G
ATRNL1     AU2410302chr10:
117107978-117107978
GCintronicDe novo--Yuen2017 G
ATRNL1     1-0585-003chr10:
117775022-117775022
GAintergenicDe novo--Yuen2017 G
ATRNL1     2-0208-003chr10:
117322102-117322102
TCintronicDe novo--Yuen2017 G
ATRNL1     1-0661-003chr10:
117341771-117341771
GAintronicDe novo--Yuen2017 G
ATRNL1     13515.p1chr10:
117708469-117708469
TAUTR3De novo--Turner2016 G
ATRNL1     AU070703chr10:
117806327-117806327
TGintergenicDe novo--Yuen2017 G
ATRNL1     iHART1821chr10:
117486851-117486851
CTexonicPaternalstopgainNM_207303c.C3889Tp.R1297X37.0-Ruzzo2019 G
ATRNL1     2-0003-003chr10:
117586800-117586800
AGintronicDe novo--Yuen2017 G
ATRNL1     AU058105chr10:
117326641-117326641
AGintronicDe novo--Yuen2017 G
ATRNL1     AU1894303chr10:
117696551-117696551
CTintronicDe novo--Yuen2017 G
ATRNL1     G01-GEA-285-HIchr10:
117059688-117059688
GAexonicDe novononsynonymous SNVNM_207303c.G2560Ap.A854T9.691-Satterstrom2020 E
ATRNL1     1-0757-003chr10:
117053259-117053265
GTTTTTTGTTTTTTTintronicDe novo--Yuen2017 G
ATRNL1     2-1384-003chr10:
116946458-116946458
TGintronicDe novo--Yuen2017 G
ATRNL1     1-0196-005chr10:
117466876-117466879
TCCCTCCintronicDe novo--Yuen2017 G
ATRNL1     AU045514chr10:
117338784-117338784
TCintronicDe novo--Yuen2017 G
ATRNL1     1-0381-003chr10:
117332352-117332352
GAintronicDe novo--Yuen2017 G
ATRNL1     1-0299-003chr10:
117182797-117182797
ATintronicDe novo--Yuen2017 G
ATRNL1     AU3809302chr10:
117556288-117556288
GAintronicDe novo--Yuen2017 G
ATRNL1     AU3728301chr10:
117636241-117636241
AGintronicDe novo--Yuen2017 G
ATRNL1     7-0095-004chr10:
117754101-117754101
GTintergenicDe novo--Yuen2017 G
ATRNL1     1-0303-004chr10:
116879630-116879630
AGintronicDe novo--Yuen2017 G
ATRNL1     DEASD_0436_001chr10:
117221405-117221406
GTGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ATRNL1     AU015903chr10:
117365326-117365350
AAATAATAATAATAATAATAATAATAAATAATAATAATAATAATAATintronicDe novo--Yuen2017 G
ATRNL1     AU1725306chr10:
117094958-117094958
AGintronicDe novo--Yuen2017 G
ATRNL1     1-0551-004chr10:
117281490-117281490
CTintronicDe novo--Yuen2017 G
ATRNL1     2-0296-004chr10:
117184669-117184669
TCintronicDe novo--Yuen2017 G
ATRNL1     A19chr10:
117586034-117586034
CTintronicDe novo--Wu2018 G
ATRNL1     AU2427303chr10:
117028524-117028524
AGintronicDe 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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