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Results for "ADCY9"

Variant Events: 49

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
ADCY9     2-1155-003chr16:
4078338-4078338
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCY9     TRE_1723chr16:
4163965-4163965
GTexonicDe novosynonymous SNVNM_001116c.C1479Ap.G493G--Fu2022 E
ADCY9     mAGRE1271chr16:
4164006-4164006
TAexonicMaternalstopgainNM_001116c.A1438Tp.K480X46.0-Cirnigliaro2023 G
ADCY9     80001102261chr16:
4164084-4164084
GAexonicDe novononsynonymous SNVNM_001116c.C1360Tp.P454S19.18-Fu2022 E
ADCY9     mAGRE1617chr16:
4015875-4015877
CCTCexonicMaternalframeshift deletionNM_001116c.3961_3962delp.R1321fs--Cirnigliaro2023 G
ADCY9     AU2793302chr16:
4205241-4205241
GCintergenicDe novo--Yuen2017 G
ADCY9     11717.p1chr16:
4165336-4165337
CTCexonicDe novoframeshift deletionNM_001116c.107delAp.Q36fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADCY9     1-0219-003chr16:
4078302-4078302
CTintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     E9L8Xchr16:
4165128-4165129
CCCexonicInheritedframeshift deletionNM_001116c.315delGp.L105fs--Stessman2017 T
ADCY9     4-0043-003chr16:
4029157-4029157
AGexonicDe novononsynonymous SNVNM_001116c.T2639Cp.V880A17.69-Trost2022 G
Zhou2022 GE
ADCY9     5-0128-003chr16:
4229138-4229138
GTintergenicDe novo--Yuen2017 G
ADCY9     2-1605-004chr16:
4047949-4047949
GGTGTGTGTGCCAintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     2-0110-003chr16:
4061234-4061234
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCY9     2-0110-003chr16:
4055326-4055326
CGintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY9     SP0124113chr16:
4165503-4165503
GAintronicDe novo--Fu2022 E
Trost2022 G
ADCY9     SP0036020chr16:
4029255-4029255
GAexonicDe novosynonymous SNVNM_001116c.C2541Tp.D847D-6.637E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ADCY9     SP0047317chr16:
4016663-4016663
CAexonicDe novononsynonymous SNVNM_001116c.G3175Tp.V1059L27.9-Fu2022 E
Trost2022 G
Zhou2022 GE
ADCY9     1-0708-003chr16:
4150570-4150570
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     1-0139-003chr16:
4125885-4125885
TGintronicDe novo--Yuen2017 G
ADCY9     M08509chr16:
4027549-4027549
GAexonicPaternalnonsynonymous SNVNM_001116c.C2762Tp.S921F31.0-Guo2018 T
Wang2016 T
ADCY9     iHART1617chr16:
4015875-4015877
CCTCexonicMaternalframeshift deletionNM_001116c.3961_3962delp.R1321fs--Ruzzo2019 G
ADCY9     iHART1271chr16:
4164006-4164006
TAexonicMaternalstopgainNM_001116c.A1438Tp.K480X46.0-Ruzzo2019 G
ADCY9     217-14191-3150chr16:
4016591-4016591
GAexonicUnknownnonsynonymous SNVNM_001116c.C3247Tp.R1083W20.68.237E-6Stessman2017 T
ADCY9     1-0246-004chr16:
4109854-4109854
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     M21743chr16:
4016168-4016168
CTexonicMaternalnonsynonymous SNVNM_001116c.G3670Ap.D1224N32.0-Guo2018 T
Wang2016 T
ADCY9     1-0025-006chr16:
4067512-4067512
AGintronicDe novo--Trost2022 G
ADCY9     AU4029302chr16:
4197819-4197819
GTintergenicDe novo--Yuen2017 G
ADCY9     3-0826-000chr16:
4091786-4091786
CTintronicDe novo--Trost2022 G
ADCY9     MSSNG00013-004chr16:
4060765-4060765
CTintronicDe novo--Trost2022 G
ADCY9     1-0025-006chr16:
4067505-4067505
CTintronicDe novo--Trost2022 G
ADCY9     1-0903-004chr16:
4047186-4047186
CTintronicDe novo--Trost2022 G
ADCY9     10-1104-004chr16:
4047949-4047949
GGTGTGTGTGCCAintronicDe novo--Trost2022 G
ADCY9     MSSNG00429-003chr16:
4022610-4022610
TCintronicDe novo--Trost2022 G
ADCY9     MSSNG00254-004chr16:
4032722-4032722
TCintronicDe novo--Trost2022 G
ADCY9     MSSNG00029-004chr16:
4151409-4151409
TCintronicDe novo--Trost2022 G
ADCY9     1008chr16:
4153456-4153456
GCintronicDe novo--Trost2022 G
ADCY9     2-1548-003chr16:
4118426-4118426
GTintronicDe novo--Trost2022 G
ADCY9     AU4186302chr16:
4044777-4044777
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     2-1348-003chr16:
4125882-4125883
GTGintronicDe novo--Trost2022 G
ADCY9     3-0781-000chr16:
4103346-4103346
AGintronicDe novo--Trost2022 G
ADCY9     2-0238-004chr16:
4107495-4107495
GAintronicDe novo--Trost2022 G
ADCY9     3-0430-000chr16:
4183360-4183360
CGintergenicDe novo--Yuen2016 G
ADCY9     07C65175chr16:
4016845-4016845
CTexonicUnknownnonsynonymous SNVNM_001116c.G2993Ap.R998H22.92.479E-5Stessman2017 T
ADCY9     3-0428-000chr16:
4034892-4034892
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY9     2-0238-004chr16:
4177589-4177589
AAATGGTTATGGTGintergenicDe novo--Yuen2017 G
ADCY9     2-1269-003chr16:
4214241-4214241
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ADCY9     1-0121-003chr16:
4142513-4142513
CGintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     1-0121-003chr16:
4142040-4142040
CTintronicDe novo--Trost2022 G
Yuen2017 G
ADCY9     M08862chr16:
4016224-4016224
CTexonicPaternalnonsynonymous SNVNM_001116c.G3614Ap.R1205H31.08.238E-6Guo2018 T
Wang2016 T
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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