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Results for "RFX8"
Variant Events: 16
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
RFX8
2-0289-003
chr2:
102035290-102035290
T
C
intronic
De novo
-
-
Yuen2017
G
RFX8
SP0052616
chr2:
102031315-102031315
C
T
splicing
De novo
splicing
18.85
-
Fu2022
E
RFX8
1-0511-003
chr2:
102260346-102260365
TTTTGTTTGTTTGTTTGTTT
TTTTGTTTGTTTGTTT
intergenic
De novo
-
-
Yuen2017
G
RFX8
1-0546-003
chr2:
102225960-102225960
T
G
intergenic
De novo
-
-
Yuen2017
G
RFX8
AU011704
chr2:
102204143-102204143
G
T
intergenic
De novo
-
-
Yuen2017
G
RFX8
AU059903
chr2:
102247803-102247805
AGT
A
intergenic
De novo
-
-
Yuen2017
G
RFX8
AU4145301
chr2:
102064887-102064887
C
T
intronic
De novo
-
-
Yuen2017
G
RFX8
12641_p1
chr2:
102014147-102014147
C
T
exonic
De novo
nonsynonymous SNV
NM_001145664
c.G1285A
p.A429T
0.007
-
Fu2022
E
RFX8
AU1952305
chr2:
102312425-102312428
TTCT
TT
intergenic
De novo
-
-
Yuen2017
G
RFX8
1-0652-004
chr2:
102189040-102189040
C
T
intergenic
De novo
-
-
Yuen2017
G
RFX8
SSC03560
chr2:
102083246-102083246
A
C
exonic
De novo
nonsynonymous SNV
NM_001145664
c.T65G
p.F22C
16.45
-
Fu2022
E
Lim2017
E
RFX8
2-1237-003
chr2:
102138098-102138107
AATGGGTCAT
AAT
intergenic
De novo
-
-
Yuen2017
G
RFX8
AU3763305
chr2:
102098949-102098949
A
T
intergenic
De novo
-
-
Yuen2017
G
RFX8
12641.p1
chr2:
102014147-102014147
C
T
exonic
De novo
nonsynonymous SNV
NM_001145664
c.G1285A
p.A429T
0.007
-
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
O’Roak2012b
E
Satterstrom2020
E
Wilfert2021
G
RFX8
11962.p1
chr2:
102083246-102083246
A
C
exonic
De novo
nonsynonymous SNV
NM_001145664
c.T65G
p.F22C
16.45
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Sanders2012
E
Satterstrom2020
E
RFX8
2-1178-003
chr2:
102233767-102233767
G
T
intergenic
De 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 notes
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