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Results for "RUFY1"

Variant Events: 12

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
RUFY1     2-1132-003chr5:
179021786-179021786
CAintronicDe novo--Yuen2017 G
RUFY1     1-0141-003chr5:
179040120-179040120
GAintergenicDe novo--Yuen2017 G
RUFY1     2-1702-004chr5:
178999693-178999697
CAATGCintronicDe novo--Yuen2017 G
RUFY1     2-1415-004chr5:
179021490-179021490
TCintronicDe novo--Yuen2017 G
RUFY1     2-1526-003chr5:
179021490-179021490
TCintronicDe novo--Yuen2017 G
RUFY1     NDAR_INVLH429WK1_wes1chr5:
179023604-179023604
GAexonicDe novononsynonymous SNVNM_001040451
NM_001040452
NM_025158
c.G1229A
c.G1229A
c.G1553A
p.R410Q
p.R410Q
p.R518Q
4.182-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RUFY1     Kim2020:B29chr5:
179036381-179036381
AGexonicDe novononsynonymous SNVNM_001040451
NM_001040452
NM_025158
c.A1664G
c.A1664G
c.A1988G
p.H555R
p.H555R
p.H663R
21.7-Kim2020 E
RUFY1     2-1134-003chr5:
179034611-179034611
CTexonicDe novononsynonymous SNVNM_001040451
NM_001040452
NM_025158
c.C1610T
c.C1610T
c.C1934T
p.A537V
p.A537V
p.A645V
22.48.241E-6Yuen2017 G
RUFY1     1-0048-003chr5:
178987037-178987037
CGexonicDe novononsynonymous SNVNM_025158c.C322Gp.Q108E13.45-Yuen2017 G
RUFY1     2-0307-003chr5:
179021490-179021490
TCintronicDe novo--Yuen2017 G
RUFY1     AU3888302chr5:
179015951-179015951
CTintronicDe novo--Yuen2017 G
RUFY1     1-0048-003chr5:
178983884-178983884
GAintronicDe 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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