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Results for "ARMC9"

Variant Events: 13

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
ARMC9     1-0125-003chr2:
232184419-232184419
CGintronicDe novo--Yuen2017 G
ARMC9     2-1442-003chr2:
232210452-232210452
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ARMC9     1-0218-004chr2:
232216000-232216000
CTintronicDe novo--Yuen2017 G
ARMC9     F1561-1chr2:
232135757-232135757
CTexonicDe novosynonymous SNVNM_001291656
NM_025139
c.C1182T
c.C1182T
p.L394L
p.L394L
10.25-Satterstrom2020 E
ARMC9     AU1795303chr2:
232198043-232198043
TCintronicDe novo--Yuen2017 G
ARMC9     2-1220-003chr2:
232124244-232124251
CGCTACTTCintronicDe novo--Yuen2017 G
ARMC9     2-0318-003chr2:
232130879-232130880
GTGintronicDe novo--Yuen2017 G
ARMC9     AU2293302chr2:
232065042-232065042
AGintronicDe novo--Yuen2017 G
ARMC9     11246.p1chr2:
232127057-232127057
CGexonicMosaic, De novosynonymous SNVNM_001291656
NM_025139
c.C1065G
c.C1065G
p.T355T
p.T355T
6.772-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ARMC9     1-0494-003chr2:
232188864-232188864
TGintronicDe novo--Yuen2017 G
ARMC9     1-0044-003chr2:
232114006-232114006
GAintronicDe novo--Yuen2017 G
ARMC9     1-0232-004chr2:
232169908-232169908
AGintronicDe novo--Yuen2017 G
ARMC9     1-0279-004chr2:
232255970-232255970
CCTTGAGintergenicDe 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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