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Results for "KCTD9"

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
KCTD9     MSSNG00199-003chr8:
25296912-25296912
TAexonicDe novononsynonymous SNVNM_017634c.A382Tp.N128Y24.7-Trost2022 G
Zhou2022 GE
KCTD9     Kim2020:A9chr8:
25293758-25293758
CTexonicDe novononsynonymous SNVNM_017634c.G656Ap.R219Q35.0-Kim2020 E
KCTD9     SP0101570chr8:
25315678-25315678
ATintronicDe novo--Trost2022 G
Trost2022 G
KCTD9     2-1370-003chr8:
25306961-25306961
ACintronicDe novo--Trost2022 G
KCTD9     AU1725302chr8:
25296876-25296876
GAexonicMaternalstopgainNM_017634c.C418Tp.R140X35.08.327E-6Cirnigliaro2023 G
KCTD9     SP0054427chr8:
25315677-25315677
GCintronicDe novo--Trost2022 G
Trost2022 G
KCTD9     AU4145301chr8:
25304589-25304589
GTintronicDe novo--Trost2022 G
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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