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Results for "OTUD7B"

Variant Events: 13

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
OTUD7B     4-0073-003chr1:
149946191-149946193
TTAATTintronicDe novo--Trost2022 G
OTUD7B     SP0018447chr1:
149922007-149922007
GAexonicDe novosynonymous SNVNM_020205c.C963Tp.S321S-8.29E-6Fu2022 E
Trost2022 G
Zhou2022 GE
OTUD7B     MSSNG00396-003chr1:
149931837-149931837
GTintronicDe novo--Trost2022 G
OTUD7B     MSSNG00344-003chr1:
149963092-149963092
TCintronicDe novo--Trost2022 G
OTUD7B     AU2139305chr1:
149921107-149921107
CTintronicDe novo--Trost2022 G
Yuen2017 G
OTUD7B     SP0018517chr1:
149916885-149916885
TCexonicDe novononsynonymous SNVNM_020205c.A1403Gp.D468G20.1-Fu2022 E
Zhou2022 GE
OTUD7B     MSSNG00091-003chr1:
149923482-149923482
GAintronicDe novo--Trost2022 G
OTUD7B     7-0094-004chr1:
149915418-149915418
ACUTR3De novo--Trost2022 G
OTUD7B     F8293-1chr1:
149916816-149916816
TCexonicDe novononsynonymous SNVNM_020205c.A1472Gp.D491G6.336-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OTUD7B     200675775@1082034220chr1:
149919191-149919191
GAexonicDe novosynonymous SNVNM_020205c.C1284Tp.Y428Y--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OTUD7B     7-0151-003chr1:
149915088-149915088
TCUTR3De novo--Yuen2017 G
OTUD7B     12150.p1chr1:
149943132-149943132
GTexonicDe novononsynonymous SNVNM_020205c.C133Ap.R45S24.9-Wilfert2021 G
Zhou2022 GE
OTUD7B     200675775_1082034220chr1:
149919191-149919191
GAexonicDe novosynonymous SNVNM_020205c.C1284Tp.Y428Y--Fu2022 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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