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Results for "ADCY7"

Variant Events: 15

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
ADCY7     1-0246-004chr16:
50342455-50342455
CGintronicDe novo--Trost2022 G
Yuen2017 G
ADCY7     SP0017248chr16:
50338337-50338337
CTexonicDe novononsynonymous SNVNM_001114
NM_001286057
c.C1435T
c.C1435T
p.R479W
p.R479W
19.78-Fu2022 E
Trost2022 G
Zhou2022 GE
ADCY7     80001103406chr16:
50348306-50348306
GAexonicDe novononsynonymous SNVNM_001114c.G2960Ap.R987H36.03.329E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADCY7     mAGRE2489chr16:
50324569-50324569
CTexonicMaternalstopgainNM_001114
NM_001286057
c.C373T
c.C373T
p.Q125X
p.Q125X
37.0-Cirnigliaro2023 G
ADCY7     CC825_201chr16:
50325795-50325795
GAexonicDe novononsynonymous SNVNM_001114
NM_001286057
c.G524A
c.G524A
p.R175Q
p.R175Q
1.826-Fu2022 E
ADCY7     3-0530-000chr16:
50328566-50328566
CAexonicDe novononsynonymous SNVNM_001114
NM_001286057
c.C852A
c.C852A
p.D284E
p.D284E
26.1-Trost2022 G
Zhou2022 GE
ADCY7     AU1795302chr16:
50324085-50324085
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADCY7     1-0514-003chr16:
50351309-50351309
TCUTR3De novo--Yuen2016 G
Yuen2017 G
ADCY7     iHART2489chr16:
50324569-50324569
CTexonicMaternalstopgainNM_001114
NM_001286057
c.C373T
c.C373T
p.Q125X
p.Q125X
37.0-Ruzzo2019 G
ADCY7     SP0072007chr16:
50338291-50338291
CTexonicDe novosynonymous SNVNM_001114
NM_001286057
c.C1389T
c.C1389T
p.P463P
p.P463P
--Fu2022 E
Trost2022 G
Zhou2022 GE
ADCY7     SP0111477chr16:
50332899-50332899
CTexonicDe novononsynonymous SNVNM_001114
NM_001286057
c.C1033T
c.C1033T
p.R345W
p.R345W
23.61.659E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ADCY7     7-0365-004chr16:
50301295-50301295
GAintronicDe novo--Trost2022 G
ADCY7     Kim2020:B10chr16:
50327391-50327391
GAexonicDe novononsynonymous SNVNM_001114
NM_001286057
c.G814A
c.G814A
p.V272I
p.V272I
15.288.278E-5Kim2020 E
ADCY7     SP0243796chr16:
50346036-50346039
CCTTCexonicDe novononframeshift deletionNM_001114c.2539_2541delp.847_847del--Trost2022 G
ADCY7     AU055603chr16:
50347542-50347542
AGintronicDe novo--Trost2022 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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