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Results for "RBM38"

Variant Events: 14

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
RBM38     SP0000972chr20:
55966762-55966762
CTexonicMosaic, De novononsynonymous SNVNM_001291780
NM_017495
NM_183425
c.C125T
c.C125T
c.C125T
p.P42L
p.P42L
p.P42L
16.53-Feliciano2019 E
Feliciano2019 E
RBM38     2-0043-003chr20:
55975574-55975574
GTintronicDe novo--Yuen2016 G
Yuen2017 G
RBM38     2-1265-003chr20:
56040019-56040019
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
RBM38     2-1210-003chr20:
56011044-56011044
CAintergenicDe novo--Yuen2017 G
RBM38     2-1148-004chr20:
55980676-55980676
GCintronicDe novo--Yuen2017 G
RBM38     7-0167-003chr20:
56025753-56025753
GAintergenicDe novo--Yuen2017 G
RBM38     AU3398301chr20:
56017611-56017618
GCCCCCCCGCCCCCCCCintergenicDe novo--Yuen2017 G
RBM38     2-1357-003chr20:
55981575-55981575
AGintronicDe novo--Yuen2017 G
RBM38     AU4145301chr20:
55991410-55991410
CTintergenicDe novo--Yuen2017 G
RBM38     7-0130-003chr20:
55968795-55968795
CCCTintronicDe novo--Yuen2017 G
RBM38     AU1725302chr20:
55993894-55993894
GAintergenicDe novo--Yuen2017 G
RBM38     2-1718-003chr20:
55996967-55996967
GAintergenicDe novo--Yuen2017 G
RBM38     AU3764302chr20:
56035575-56035575
TTAintergenicDe novo--Yuen2017 G
RBM38     2-1107-003chr20:
56036629-56036629
TGintergenicDe novo--Yuen2016 G
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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