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Results for "KCNB1"

Variant Events: 14

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
KCNB1     AU2029303chr20:
48042875-48042875
GAintronicDe novo--Yuen2017 G
KCNB1     F2685-1chr20:
47991181-47991181
GAexonicDe novononsynonymous SNVNM_004975c.C916Tp.R306C17.67-Montenegro2019 E
KCNB1     60-2027chr20:
48084667-48084667
AGintronicDe novo--Michaelson2012 G
KCNB1     552-06-107496chr20:
47991162-47991162
CTexonicDe novononsynonymous SNVNM_004975c.G935Ap.R312H23.2-Satterstrom2020 E
KCNB1     AU1848302chr20:
47991014-47991014
GCexonicDe novononsynonymous SNVNM_004975c.C1083Gp.F361L14.94-Yuen2017 G
KCNB1     AU2029302chr20:
48042875-48042875
GAintronicDe novo--Yuen2017 G
KCNB1     AU3398301chr20:
48000975-48000975
CTintronicDe novo--Yuen2017 G
KCNB1     AU3398301chr20:
48001048-48001048
TCintronicDe novo--Yuen2017 G
KCNB1     AU047904chr20:
47998806-47998806
GAintronicDe novo--Yuen2017 G
KCNB1     AU3398301chr20:
47993889-47993889
CGintronicDe novo--Yuen2017 G
KCNB1     Cukier2014:7503chr20:
47989527-47989527
CTexonicUnknownnonsynonymous SNVNM_004975c.G2570Ap.S857N12.640.0115Cukier2014 E
KCNB1     G01-GEA-166-HIchr20:
47991500-47991500
GCexonicDe novononsynonymous SNVNM_004975c.C597Gp.I199M14.05-Satterstrom2020 E
KCNB1     AU2000305chr20:
48091327-48091327
TAintronicDe novo--Yuen2017 G
KCNB1     Mahjani2021:71chr20:
47991117-47991117
CGexonicnonsynonymous SNVNM_004975c.G980Cp.S327T19.55-Mahjani2021 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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