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Results for "AQP5"

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
AQP5     12597.p1chr12:
50359773-50359773
TCdownstreamDe novo--Wilfert2021 G
AQP5     SP0249763chr12:
50357855-50357855
ACintronicDe novo--Trost2022 G
AQP5     SP0232017chr12:
50357855-50357855
ACintronicDe novo--Trost2022 G
AQP5     SP0120278chr12:
50359002-50359002
GAUTR3De novo--Fu2022 E
AQP5     SP0247473chr12:
50357855-50357855
ACintronicDe novo--Trost2022 G
AQP5     SP0084700chr12:
50357855-50357855
ACintronicDe novo--Trost2022 G
AQP5     SP0145951chr12:
50357855-50357855
ACintronicDe novo--Trost2022 G
AQP5     SP0021718chr12:
50358876-50358876
CTexonicDe novosynonymous SNVNM_001651c.C714Tp.I238I--Fu2022 E
Trost2022 G
Zhou2022 GE
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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