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Results for "FXYD5"

Variant Events: 13

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
FXYD5     11456.p1chr19:
35661119-35661119
TAdownstreamDe novo--Turner2016 G
FXYD5     AU3874301chr19:
35680364-35680364
ATintergenicDe novo--Yuen2017 G
FXYD5     5-0073-003chr19:
35648337-35648337
AGexonicDe novosynonymous SNVNM_001164605
NM_014164
NM_144779
c.A75G
c.A75G
c.A75G
p.K25K
p.K25K
p.K25K
--Yuen2017 G
FXYD5     1-0160-004chr19:
35699740-35699740
GGCCintergenicDe novo--Yuen2017 G
FXYD5     5-0073-003chr19:
35648395-35648395
CTexonicDe novostopgainNM_001164605
NM_014164
NM_144779
c.C133T
c.C133T
c.C133T
p.R45X
p.R45X
p.R45X
13.538.466E-6Yuen2017 G
FXYD5     2-1605-004chr19:
35679123-35679123
CTintergenicDe novo--Yuen2017 G
FXYD5     2-1416-004chr19:
35665594-35665594
GAintergenicDe novo--Yuen2017 G
FXYD5     AU4027306chr19:
35691164-35691164
CTintergenicDe novo--Yuen2017 G
FXYD5     iHART2168chr19:
35660473-35660473
CCAexonicPaternalframeshift insertionNM_001164605
NM_014164
NM_144779
c.493dupA
c.493dupA
c.493dupA
p.G164fs
p.G164fs
p.G164fs
--Ruzzo2019 G
FXYD5     iHART3275chr19:
35648395-35648395
CTexonicPaternalstopgainNM_001164605
NM_014164
NM_144779
c.C133T
c.C133T
c.C133T
p.R45X
p.R45X
p.R45X
13.538.466E-6Ruzzo2019 G
FXYD5     200675689@1082034232chr19:
35655068-35655069
CTCexonicDe novoframeshift deletionNM_001164605
NM_014164
NM_144779
c.303delT
c.303delT
c.303delT
p.T101fs
p.T101fs
p.T101fs
--Satterstrom2020 E
FXYD5     AU1952305chr19:
35676354-35676354
GTintergenicDe novo--Yuen2017 G
FXYD5     Chen2017:106chr19:
35655068-35655069
CTCexonicDe novoframeshift deletionNM_001164605
NM_014164
NM_144779
c.303delT
c.303delT
c.303delT
p.T101fs
p.T101fs
p.T101fs
--Chen2017 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 notesView
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