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Results for "KCNN3"

Variant Events: 25

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     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--Trost2022 G
Yuen2017 G
KCNN3     7-0257-003chr1:
154683893-154683893
AGintronicDe novo--Trost2022 G
KCNN3     2-0244-004chr1:
154769407-154769407
GAintronicDe novo--Trost2022 G
Yuen2017 G
KCNN3     REACH000751chr1:
154760762-154760762
GAintronicDe novo--Trost2022 G
KCNN3     SJD_46.3chr1:
154760503-154760503
GAintronicDe novo--Trost2022 G
KCNN3     MSSNG00402-003chr1:
154770978-154770978
CAintronicDe novo--Trost2022 G
KCNN3     MSSNG00224-003chr1:
154765412-154765412
GCintronicDe novo--Trost2022 G
KCNN3     1-0319-004chr1:
154704418-154704418
GAintronicDe novo--Trost2022 G
KCNN3     5-5152-003chr1:
154686696-154686696
GCintronicDe novo--Trost2022 G
KCNN3     7-0240-005chr1:
154734214-154734214
ACintronicDe novo--Trost2022 G
KCNN3     3-0404-000Achr1:
154715879-154715879
GAintronicDe novo--Trost2022 G
KCNN3     AU4410302chr1:
154723105-154723105
AGintronicDe novo--Trost2022 G
Yuen2017 G
KCNN3     5-5180-003chr1:
154794193-154794193
GAintronicDe novo--Trost2022 G
KCNN3     7-0128-003chr1:
154787819-154787819
GTintronicDe novo--Trost2022 G
KCNN3     7-0470-003chr1:
154836199-154836199
AGintronicDe novo--Trost2022 G
KCNN3     1-0455-004chr1:
154768617-154768617
GTintronicDe novo--Trost2022 G
Yuen2017 G
KCNN3     AU004403chr1:
154822527-154822527
CTintronicDe novo--Trost2022 G
KCNN3     7-0128-003chr1:
154787812-154787812
CTintronicDe novo--Trost2022 G
KCNN3     REACH000380chr1:
154773963-154773963
GAintronicDe novo--Trost2022 G
KCNN3     7-0128-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
KCNN3     7-0128-003chr1:
154787814-154787814
CTintronicDe novo--Trost2022 G
KCNN3     AU4347301chr1:
154687277-154687277
CTintronicDe novo--Trost2022 G
Yuen2017 G
KCNN3     7-0123-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KCNN3     11573.p1chr1:
154715328-154715328
GAintronicDe novo--Wilfert2021 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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