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Results for "KCNN3"

Variant Events: 8

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
KCNN3     AU4347301chr1:
154687277-154687277
CTintronicDe novo--Yuen2017 G
KCNN3     A24chr1:
154842244-154842244
ATexonicDe novononsynonymous SNVNM_001204087
NM_002249
c.T197A
c.T197A
p.L66H
p.L66H
9.9860.1038Wu2018 G
KCNN3     5-0030-003chr1:
154770679-154770679
GCintronicDe novo--Yuen2017 G
KCNN3     11573.p1chr1:
154715328-154715328
GAintronicDe novo--Wilfert2021 G
KCNN3     AU4410302chr1:
154723105-154723105
AGintronicDe novo--Yuen2017 G
KCNN3     1-0455-004chr1:
154768617-154768617
GTintronicDe novo--Yuen2017 G
KCNN3     2-0244-004chr1:
154769407-154769407
GAintronicDe novo--Yuen2017 G
KCNN3     7-0123-003chr1:
154669531-154669540
AGACCCTCTGAGdownstreamDe 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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