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Results for "RNF38"

Variant Events: 21

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
RNF38     12056.p1chr9:
36375929-36375929
AGsplicingDe novosplicing20.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
RNF38     1-0991-003chr9:
36535076-36535076
GAintergenicDe novo--Yuen2017 G
RNF38     AU4027306chr9:
36530568-36530568
CTintergenicDe novo--Yuen2017 G
RNF38     1-0991-003chr9:
36443254-36443254
GCintergenicDe novo--Yuen2017 G
RNF38     AU4027306chr9:
36536049-36536049
AGintergenicDe novo--Yuen2017 G
RNF38     7-0032-003chr9:
36560639-36560639
ATintergenicDe novo--Yuen2017 G
RNF38     AU3777302chr9:
36358535-36358535
CGintronicDe novo--Yuen2017 G
RNF38     AU4067301chr9:
36347711-36347717
TTAATAATTAAintronicDe novo--Yuen2017 G
RNF38     2-1323-003chr9:
36534552-36534552
CTintergenicDe novo--Yuen2016 G
RNF38     Uddin2014:17chr9:
36375929-36375929
AGsplicingDe novosplicing20.7-Uddin2014 E
RNF38     AU076509chr9:
36439489-36439489
AGintergenicDe novo--Yuen2017 G
RNF38     2-0242-004chr9:
36335729-36335729
CTdownstreamDe novo--Yuen2017 G
RNF38     Li2017:23139chr9:
36356440-36356440
GTexonicUnknownnonsynonymous SNVNM_194329
NM_194332
NM_022781
NM_194328
NM_194330
c.C619A
c.C520A
c.C769A
c.C520A
c.C520A
p.P207T
p.P174T
p.P257T
p.P174T
p.P174T
26.78.402E-6Li2017 T
RNF38     1-0004-003chr9:
36467037-36467037
GTintergenicDe novo--Yuen2017 G
RNF38     SSC04732chr9:
36375929-36375929
AGsplicingDe novosplicing20.7-Lim2017 E
RNF38     2-1231-003chr9:
36463190-36463190
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
RNF38     1-0261-003chr9:
36474944-36474944
GTintergenicDe novo--Yuen2017 G
RNF38     AU4479301chr9:
36487791-36487791
GAintergenicDe novo--Yuen2017 G
RNF38     AU3779304chr9:
36491695-36491695
CAintergenicDe novo--Yuen2017 G
RNF38     AU3124302chr9:
36442862-36442862
TCintergenicDe novo--Yuen2017 G
RNF38     AU4286302chr9:
36482056-36482056
TCintergenicDe 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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