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Results for "KCNQ5"

Variant Events: 19

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
KCNQ5     AU1698302chr6:
73644226-73644226
TCintronicDe novo--Yuen2017 G
KCNQ5     2-1245-003chr6:
73917252-73917252
CTintergenicDe novo--Yuen2017 G
KCNQ5     5-0055-003chr6:
73670634-73670634
GAintronicDe novo--Yuen2017 G
KCNQ5     AU3779301chr6:
73778624-73778624
ATintronicDe novo--Yuen2017 G
KCNQ5     1-0381-003chr6:
73429367-73429370
GCACGCintronicDe novo--Yuen2017 G
KCNQ5     5-0140-003chr6:
73597903-73597903
CTintronicDe novo--Yuen2017 G
KCNQ5     2-0045-003chr6:
73526611-73526611
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KCNQ5     7-0140-003chr6:
73772558-73772558
CTintronicDe novo--Yuen2017 G
KCNQ5     iHART2949chr6:
73905015-73905016
GCGexonicMaternalframeshift deletionNM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133
c.2348delC
c.2651delC
c.2708delC
c.2678delC
c.2735delC
p.A783fs
p.A884fs
p.A903fs
p.A893fs
p.A912fs
--Ruzzo2019 G
KCNQ5     iHART2948chr6:
73905015-73905016
GCGexonicMaternalframeshift deletionNM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133
c.2348delC
c.2651delC
c.2708delC
c.2678delC
c.2735delC
p.A783fs
p.A884fs
p.A903fs
p.A893fs
p.A912fs
--Ruzzo2019 G
KCNQ5     5-0055-004chr6:
73670634-73670634
GAintronicDe novo--Yuen2017 G
KCNQ5     AU3371301chr6:
73558624-73558624
CTintronicDe novo--Yuen2017 G
KCNQ5     2-1422-003chr6:
73696567-73696567
CAintronicDe novo--Yuen2016 G
Yuen2017 G
KCNQ5     AU4079301chr6:
73922471-73922471
CTintergenicDe novo--Yuen2017 G
KCNQ5     1-0701-003chr6:
73630761-73630761
CGintronicDe novo--Yuen2017 G
KCNQ5     1-0336-004chr6:
73391883-73391883
AGintronicDe novo--Yuen2017 G
KCNQ5     SJD_49chr6:
73900363-73900363
GAexonicMaternalnonsynonymous SNVNM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133
c.G1315A
c.G1618A
c.G1675A
c.G1645A
c.G1702A
p.V439I
p.V540I
p.V559I
p.V549I
p.V568I
32.0-Toma2013 E
KCNQ5     2-1399-003chr6:
73537258-73537258
AGintronicDe novo--Yuen2017 G
KCNQ5     2-0318-004chr6:
73854733-73854733
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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