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Results for "CYP24A1"

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
CYP24A1     10-0010-003chr20:
52769689-52769689
GAdownstreamDe novo--Trost2022 G
CYP24A1     AU4007301chr20:
52810557-52810557
CAintergenicDe novo--Yuen2017 G
CYP24A1     Wang2023:822chr20:
52773965-52773965
GAexonicDe novostopgainNM_000782c.C1396Tp.R466X42.0-Wang2023 E
CYP24A1     SMHC00822d000chr20:
52773965-52773965
GAexonicDe novostopgainNM_000782c.C1396Tp.R466X42.0-Yuan2023 E
CYP24A1     12072.p1chr20:
52773868-52773868
CTintronicDe novo--Satterstrom2020 E
CYP24A1     2-1377-003chr20:
52774670-52774670
AGexonicDe novosynonymous SNVNM_000782
NM_001128915
c.T1191C
c.T1191C
p.T397T
p.T397T
--Trost2022 G
Zhou2022 GE
CYP24A1     A20 Complex Event; expand row to view variants  De novo--Wu2018 G
Wu2018 G
CYP24A1     68663chr20:
52773868-52773868
CTintronicDe novo--Trost2022 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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