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Results for "ADCY3"

Variant Events: 10

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
ADCY3     1-0092-003chr2:
25128345-25128345
ACintronicDe novo--Yuen2017 G
ADCY3     AU3517301chr2:
25158887-25158887
TCintergenicDe novo--Yuen2017 G
ADCY3     1-0139-003chr2:
25076669-25076669
CAintronicDe novo--Yuen2017 G
ADCY3     AU054303chr2:
25106086-25106086
GAintronicDe novo--Yuen2017 G
ADCY3     DEASD_0369_004chr2:
25042880-25042880
AGexonicDe novononsynonymous SNVNM_004036c.T3356Cp.L1119S27.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ADCY3     DEASD_0193_001chr2:
25057739-25057739
CTexonicDe novononsynonymous SNVNM_004036c.G1729Ap.V577M14.51-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ADCY3     DEASD_0171_001chr2:
25061366-25061366
GAexonicDe novononsynonymous SNVNM_004036c.C1481Tp.A494V11.3-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ADCY3     AU3634301chr2:
25153788-25153788
CGintergenicDe novo--Yuen2017 G
ADCY3     1-0051-005chr2:
25046118-25046118
CTexonicDe novononsynonymous SNVNM_004036c.G2843Ap.C948Y29.0-Yuen2017 G
ADCY3     1-0401-003chr2:
25053076-25053076
AATTintronicDe novo--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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