or
or
Exact

Results for "KCNK7"

Variant Events: 7

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
KCNK7     Li2017:19639chr11:
65362931-65362931
TCexonicUnknownnonsynonymous SNVNM_005714
NM_033347
NM_033348
NM_033455
c.A313G
c.A313G
c.A313G
c.A313G
p.T105A
p.T105A
p.T105A
p.T105A
22.6-Li2017 T
KCNK7     iHART1908chr11:
65361157-65361157
GAexonicPaternalstopgainNM_005714
NM_033347
NM_033348
NM_033455
c.C508T
c.C508T
c.C508T
c.C508T
p.Q170X
p.Q170X
p.Q170X
p.Q170X
34.09.334E-5Ruzzo2019 G
KCNK7     A12011-1chr11:
65360917-65360917
CAexonicUnknownstopgainNM_005714c.G748Tp.G250X20.98.356E-6Li2017 T
KCNK7     A9chr11:
65360917-65360917
CAexonicDe novostopgainNM_005714c.G748Tp.G250X20.98.356E-6Wu2018 G
KCNK7     A2chr11:
65363068-65363069
GGGexonicDe novoframeshift deletionNM_005714
NM_033347
NM_033348
NM_033455
c.175delC
c.175delC
c.175delC
c.175delC
p.P59fs
p.P59fs
p.P59fs
p.P59fs
--Wu2018 G
KCNK7     Li2017:20250chr11:
65360917-65360917
CAexonicUnknownstopgainNM_005714c.G748Tp.G250X20.98.356E-6Li2017 T
KCNK7     A12005chr11:
65363067-65363068
TGTexonicUnknownframeshift deletionNM_005714
NM_033347
NM_033348
NM_033455
c.176delC
c.176delC
c.176delC
c.176delC
p.P59fs
p.P59fs
p.P59fs
p.P59fs
--Li2017 T
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