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Results for "FBXO42"

Variant Events: 26

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
FBXO42     3-0091-000chr1:
16637332-16637332
CTintronicDe novo--Trost2022 G
FBXO42     2-0132-004chr1:
16637332-16637332
CTintronicDe novo--Trost2022 G
FBXO42     3-0099-001Achr1:
16646303-16646303
GAintronicDe novo--Trost2022 G
FBXO42     3-0063-000chr1:
16637332-16637332
CTintronicDe novo--Trost2022 G
FBXO42     MSSNG00415-003chr1:
16585661-16585661
AGintronicDe novo--Trost2022 G
FBXO42     2-1292-003chr1:
16656973-16656973
GCintronicDe novo--Trost2022 G
Yuen2017 G
FBXO42     MSSNG00349-004chr1:
16578538-16578538
AGintronicDe novo--Trost2022 G
FBXO42     REACH000101chr1:
16606378-16606378
GTintronicDe novo--Trost2022 G
FBXO42     MSSNG00027-003chr1:
16592202-16592202
AGintronicDe novo--Trost2022 G
FBXO42     1-0338-003chr1:
16610459-16610459
TTTTAATACAGTAintronicDe novo--Yuen2017 G
FBXO42     3-0497-001chr1:
16653227-16653238
GGTGATGTTTTTGintronicDe novo--Trost2022 G
FBXO42     REACH000643chr1:
16652400-16652400
CTintronicDe novo--Trost2022 G
FBXO42     MSSNG00045-005chr1:
16656109-16656109
CAintronicDe novo--Trost2022 G
FBXO42     3-0497-000chr1:
16653227-16653238
GGTGATGTTTTTGintronicDe novo--Trost2022 G
FBXO42     1-0296-004chr1:
16611044-16611044
GAintronicDe novo--Trost2022 G
Yuen2017 G
FBXO42     1647001chr1:
16578943-16578943
GAintronicDe novo-1.67E-5Satterstrom2020 E
Trost2022 G
FBXO42     1-0455-004chr1:
16576866-16576866
ATUTR3De novo--Trost2022 G
Yuen2017 G
FBXO42     EX12Achr1:
16583152-16583152
TCexonicDe novononsynonymous SNVNM_018994c.A605Gp.Q202R28.2-Fu2022 E
FBXO42     1-0339-004chr1:
16609314-16609314
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXO42     2-1176-003chr1:
16610459-16610459
TTTTAATACAGTAintronicDe novo--Yuen2017 G
FBXO42     1-0358-003chr1:
16605387-16605387
CTintronicDe novo--Yuen2017 G
FBXO42     2-1355-003chr1:
16631946-16631946
CTintronicDe novo--Yuen2017 G
FBXO42     REACH000718chr1:
16578160-16578160
GAexonicDe novostopgainNM_018994c.C1159Tp.R387X37.0-Antaki2022 GE
Trost2022 G
Zhou2022 GE
FBXO42     1-0625-003chr1:
16604914-16604914
GAintronicDe novo--Trost2022 G
Yuen2017 G
FBXO42     SP0022160chr1:
16621261-16621261
ATintronicDe novo--Fu2022 E
Trost2022 G
FBXO42     AU3371305chr1:
16606755-16606755
TCintronicDe 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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