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Results for "USP24"

Variant Events: 20

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
USP24     2-1206-003chr1:
55665090-55665090
GTintronicDe novo--Yuen2016 G
Yuen2017 G
USP24     1-0395-003chr1:
55543074-55543074
GAintronicDe novo--Trost2022 G
Yuen2017 G
USP24     12921.p1chr1:
55598258-55598258
GAexonicDe novononsynonymous SNVNM_015306c.C3497Tp.A1166V23.5-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
USP24     SSC06080chr1:
55598258-55598258
GAexonicDe novononsynonymous SNVNM_015306c.C3497Tp.A1166V23.5-Fu2022 E
Lim2017 E
Trost2022 G
USP24     SMHC01873s000chr1:
55600043-55600043
ATexonicDe novononsynonymous SNVNM_015306c.T3245Ap.V1082E18.71-Yuan2023 E
USP24     SP0034518chr1:
55566568-55566568
ATexonicDe novononsynonymous SNVNM_015306c.T5215Ap.F1739I33.0-Fu2022 E
Trost2022 G
Zhou2022 GE
USP24     IGM1021chr1:
55569590-55569590
TCexonicDe novononsynonymous SNVNM_015306c.A4984Gp.M1662V25.89.477E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
USP24     2-1164-003chr1:
55668213-55668213
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
USP24     SP0007361chr1:
55627952-55627952
TCintronicDe novo--Fu2022 E
Trost2022 G
USP24     5-0100-003chr1:
55592737-55592737
GGTintronicDe novo--Trost2022 G
USP24     7-0469-003chr1:
55582593-55582593
TCintronicDe novo--Trost2022 G
USP24     SP0076879chr1:
55539509-55539509
ACexonicDe novosynonymous SNVNM_015306c.T7518Gp.L2506L--Fu2022 E
Trost2022 G
Zhou2022 GE
USP24     SP0051202chr1:
55565446-55565446
TGexonicDe novononsynonymous SNVNM_015306c.A5368Cp.K1790Q22.4-Fu2022 E
USP24     1-0395-004chr1:
55543074-55543074
GAintronicDe novo--Yuen2017 G
USP24     SP0030164chr1:
55563808-55563808
CTintronicDe novo--Fu2022 E
USP24     SP0090019chr1:
55573060-55573060
AGexonicDe novosynonymous SNVNM_015306c.T4614Cp.L1538L--Fu2022 E
Trost2022 G
Zhou2022 GE
USP24     G01-GEA-55-HIchr1:
55598320-55598320
TAexonicDe novosynonymous SNVNM_015306c.A3435Tp.S1145S--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
USP24     MSSNG00331-003chr1:
55624116-55624116
AGintronicDe novo--Trost2022 G
USP24     REACH000626chr1:
55616604-55616604
AGintronicDe novo--Trost2022 G
USP24     A170296chr1:
55613478-55613478
GAintronicDe novo-2.989E-5Fu2022 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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