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Results for "RBM14"
Variant Events: 7
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
RBM14
DEASD_0046_002
chr11:
66392971-66392971
G
A
exonic
De novo
nonsynonymous SNV
NM_006328
c.G1624A
p.G542S
12.3
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
RBM14
SP0040277
chr11:
66391711-66391711
G
A
exonic
De novo
nonsynonymous SNV
NM_001198836
NM_006328
c.G364A
c.G364A
p.E122K
p.E122K
15.68
-
Antaki2022
G
E
Fu2022
E
RBM14
2-1086-004
chr11:
66383917-66383917
C
T
upstream
De novo
-
-
Yuen2017
G
RBM14
SD0708013_33
chr11:
66393065-66393065
C
T
exonic
De novo
nonsynonymous SNV
NM_006328
c.C1718T
p.P573L
12.9
5.942E-5
Fu2022
E
RBM14
2-0122-003
chr11:
66396765-66396765
C
A
UTR3
De novo
-
-
Yuen2017
G
RBM14
SP0063700
chr11:
66392422-66392422
C
G
exonic
De novo
nonsynonymous SNV
NM_006328
c.C1075G
p.R359G
14.23
-
Fu2022
E
RBM14
F10637-1
chr11:
66394047-66394047
G
A
exonic
De novo
nonsynonymous SNV
NM_006328
c.G1918A
p.D640N
18.15
8.296E-6
Montenegro2019
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 notes
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