or
or
Exact

Results for "RFX8"

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
RFX8     2-0289-003chr2:
102035290-102035290
TCintronicDe novo--Yuen2017 G
RFX8     1-0511-003chr2:
102260346-102260365
TTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTintergenicDe novo--Yuen2017 G
RFX8     1-0546-003chr2:
102225960-102225960
TGintergenicDe novo--Yuen2017 G
RFX8     AU011704chr2:
102204143-102204143
GTintergenicDe novo--Yuen2017 G
RFX8     AU059903chr2:
102247803-102247805
AGTAintergenicDe novo--Yuen2017 G
RFX8     AU4145301chr2:
102064887-102064887
CTintronicDe novo--Yuen2017 G
RFX8     AU1952305chr2:
102312425-102312428
TTCTTTintergenicDe novo--Yuen2017 G
RFX8     1-0652-004chr2:
102189040-102189040
CTintergenicDe novo--Yuen2017 G
RFX8     SSC03560chr2:
102083246-102083246
ACexonicDe novononsynonymous SNVNM_001145664c.T65Gp.F22C16.45-Lim2017 E
RFX8     2-1237-003chr2:
102138098-102138107
AATGGGTCATAATintergenicDe novo--Yuen2017 G
RFX8     AU3763305chr2:
102098949-102098949
ATintergenicDe novo--Yuen2017 G
RFX8     12641.p1chr2:
102014147-102014147
CTexonicDe novononsynonymous SNVNM_001145664c.G1285Ap.A429T0.007-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
RFX8     11962.p1chr2:
102083246-102083246
ACexonicDe novononsynonymous SNVNM_001145664c.T65Gp.F22C16.45-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
RFX8     2-1178-003chr2:
102233767-102233767
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

, -

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
More