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Results for "EXOSC10"

Variant Events: 19

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
EXOSC10     1-1072-003chr1:
11151157-11151157
TCexonicDe novononsynonymous SNVNM_001001998
NM_002685
c.A557G
c.A557G
p.K186R
p.K186R
13.514.942E-5Trost2022 G
Zhou2022 GE
EXOSC10     4G659chr1:
11134308-11134308
ACexonicDe novononsynonymous SNVNM_001001998
NM_002685
c.T2062G
c.T2062G
p.F688V
p.F688V
17.57-Fu2022 E
EXOSC10     SP0077302chr1:
11160049-11160049
CTupstreamDe novo--Fu2022 E
EXOSC10     1-0820-003chr1:
11126725-11126725
GAUTR3De novo--Trost2022 G
Yuen2017 G
EXOSC10     1-0756-005chr1:
11149674-11149674
GAintronicDe novo--Yuen2017 G
EXOSC10     2-1625-003chr1:
11142586-11142586
CTintronicDe novo--Trost2022 G
EXOSC10     SP0117374chr1:
11139718-11139718
TGintronicDe novo--Trost2022 G
EXOSC10     2-0205-003chr1:
11145044-11145044
ACintronicDe novo--Trost2022 G
EXOSC10     2-1727-004chr1:
11129363-11129363
CTintronicDe novo--Trost2022 G
EXOSC10     1-0763-003chr1:
11135581-11135586
CGCTTACintronicDe novo--Trost2022 G
EXOSC10     2-1322-003chr1:
11131955-11131955
CCTintronicDe novo--Trost2022 G
EXOSC10     Marques2022:6chr1:
11147924-11147924
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C878T
c.C878T
p.S293F
p.S293F
17.588.251E-6Marques2022 ET
EXOSC10     Marques2022:5chr1:
11147872-11147872
ACexonicnonsynonymous SNVNM_001001998
NM_002685
c.T930G
c.T930G
p.F310L
p.F310L
15.12-Marques2022 ET
EXOSC10     Marques2022:8chr1:
11155907-11155907
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C280T
c.C280T
p.R94C
p.R94C
22.78.237E-6Marques2022 ET
EXOSC10     Marques2022:7chr1:
11147945-11147945
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C857T
c.C857T
p.T286I
p.T286I
17.83-Marques2022 ET
EXOSC10     Marques2022:2chr1:
11140876-11140877
GAGexonicframeshift deletionNM_001001998
NM_002685
c.1530delT
c.1530delT
p.F510fs
p.F510fs
--Marques2022 ET
EXOSC10     Marques2022:1chr1:
11140608-11140608
TCsplicingsplicing14.928.425E-6Marques2022 ET
EXOSC10     Marques2022:4chr1:
11147637-11147637
GTexonicstopgainNM_001001998
NM_002685
c.C957A
c.C957A
p.Y319X
p.Y319X
36.0-Marques2022 ET
EXOSC10     Marques2022:3chr1:
11141171-11141171
CTexonicnonsynonymous SNVNM_001001998
NM_002685
c.G1405A
c.G1405A
p.V469M
p.V469M
35.0-Marques2022 ET
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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