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Results for "ARSG"

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
ARSG     74-0115chr17:
66303922-66303922
CTintronicDe novo--Michaelson2012 G
ARSG     1-0121-003chr17:
66313731-66313731
CTintronicDe novo--Yuen2017 G
ARSG     AU3865301chr17:
66369880-66369880
ACintronicDe novo--Yuen2017 G
ARSG     1-0473-003chr17:
66378308-66378308
GAintronicDe novo--Yuen2017 G
ARSG     5-0103-003chr17:
66368441-66368441
CTintronicDe novo--Yuen2017 G
ARSG     AU3768302chr17:
66286162-66286162
AGintronicDe novo--Yuen2017 G
ARSG     AU4188302chr17:
66353530-66353530
AGintronicDe novo--Yuen2017 G
ARSG     AU2756306chr17:
66354265-66354265
GAintronicDe novo--Yuen2017 G
ARSG     2-1205-003chr17:
66299095-66299095
AGintronicDe novo--Yuen2017 G
ARSG     SP0015356chr17:
66366598-66366598
GTexonicDe novosynonymous SNVNM_001267727
NM_014960
c.G915T
c.G915T
p.P305P
p.P305P
--Feliciano2019 E
Fu2022 E
ARSG     60-2036chr17:
66364696-66364696
GAexonicInheritednonsynonymous SNVNM_001267727
NM_014960
c.G712A
c.G712A
p.G238R
p.G238R
12.959.076E-5Patowary2019 E
ARSG     2-1297-003chr17:
66308656-66308656
TTATTTTCCCTGTGTTTGCintronicDe novo--Yuen2017 G
ARSG     SP0061192chr17:
66366598-66366598
GAexonicDe novosynonymous SNVNM_001267727
NM_014960
c.G915A
c.G915A
p.P305P
p.P305P
-3.315E-5Fu2022 E
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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