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Results for "AVPR1A"

Variant Events: 14

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
AVPR1A     AU003406chr12:
63896593-63896593
GTintergenicDe novo--Yuen2017 G
AVPR1A     1-0443-003chr12:
63814152-63814152
ATintergenicDe novo--Yuen2016 G
AVPR1A     MT_47.3chr12:
63537396-63537396
TCUTR3De novo--Trost2022 G
AVPR1A     AU1725306chr12:
63543652-63543652
CTexonicDe novostopgainNM_000706c.G965Ap.W322X26.6-Cirnigliaro2023 G
Yuen2017 G
Zhou2022 GE
AVPR1A     2-0122-003chr12:
63780429-63780429
TCintergenicDe novo--Yuen2017 G
AVPR1A     JASD_Fam0097chr12:
63544381-63544381
GAexonicDe novononsynonymous SNVNM_000706c.C236Tp.T79M24.8-Takata2018 E
AVPR1A     1-0923-003chr12:
63704321-63704321
AGintergenicDe novo--Yuen2017 G
AVPR1A     AU2950301chr12:
63753598-63753598
GAintergenicDe novo--Yuen2017 G
AVPR1A     3-0018-000chr12:
63866773-63866773
AGintergenicDe novo--Yuen2017 G
AVPR1A     2-0142-003chr12:
63754700-63754700
AGintergenicDe novo--Yuen2017 G
AVPR1A     1-0323-003chr12:
63558340-63558340
CCTintergenicDe novo--Yuen2017 G
AVPR1A     2-1184-003chr12:
63858076-63858076
TCintergenicDe novo--Yuen2017 G
AVPR1A     2-1107-003chr12:
63567670-63567670
TCintergenicDe novo--Yuen2017 G
AVPR1A     2-1272-003chr12:
63920217-63920217
CGintergenicDe novo--Yuen2016 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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