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Results for "ADCY5"

Variant Events: 28

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
ADCY5     Stessman2017:ASD_1146chr3:
123046467-123046467
GAexonicUnknownnonsynonymous SNVNM_001199642
NM_183357
c.C895T
c.C1945T
p.R299W
p.R649W
20.5-Stessman2017 T
ADCY5     1-0898-003chr3:
123046669-123046669
CTintronicDe novo--Yuen2017 G
ADCY5     2-1416-004chr3:
123126428-123126428
AGintronicDe novo--Yuen2017 G
ADCY5     12688.p1chr3:
123049782-123049782
CTexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.G550A
c.G1600A
p.A184T
p.A534T
37.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
ADCY5     M20882chr3:
123022988-123022988
GAexonicUnknownnonsynonymous SNVNM_001199642
NM_183357
c.C1435T
c.C2485T
p.R479W
p.R829W
26.43.328E-5Stessman2017 T
ADCY5     M16064chr3:
123008708-123008708
CTexonicPaternalnonsynonymous SNVNM_001199642
NM_183357
c.G2371A
c.G3421A
p.D791N
p.D1141N
35.0-Guo2018 T
Wang2016 T
ADCY5     2-1442-003chr3:
123021426-123021426
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY5     12652.p1chr3:
123166430-123166431
CTCexonicPaternalframeshift deletionNM_183357c.962delAp.Q321fs--O’Roak2012a T
ADCY5     ASC_CA_60_Achr3:
123049800-123049800
CTexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.G532A
c.G1582A
p.E178K
p.E528K
37.0-Satterstrom2020 E
ADCY5     13502.p1chr3:
123164764-123164764
AGintronicDe novo--Wilfert2021 G
ADCY5     14531.p1chr3:
123167085-123167085
CTexonicDe novostopgainNM_183357c.G308Ap.W103X49.0-Wilfert2021 G
ADCY5     11653.p1chr3:
123046605-123046605
GAexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.C757T
c.C1807T
p.R253C
p.R603C
23.21.661E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ADCY5     200675257@1082034415chr3:
123039606-123039606
GAexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.C1051T
c.C2101T
p.P351S
p.P701S
9.894-Satterstrom2020 E
ADCY5     F2D5Vchr3:
123167215-123167222
CCCCCCCGCCCCCCCCGexonicUnknownframeshift insertionNM_183357c.178dupGp.A60fs-7.932E-5Stessman2017 T
ADCY5     1-0401-003chr3:
123126599-123126599
TCintronicDe novo--Yuen2017 G
ADCY5     2-1356-003chr3:
123057776-123057776
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY5     211-5211-3chr3:
123044224-123044224
CTexonicMaternalnonsynonymous SNVNM_001199642
NM_183357
c.G983A
c.G2033A
p.R328H
p.R678H
34.03.295E-5Stessman2017 T
ADCY5     AU3849302chr3:
123033387-123033387
ACintronicDe novo--Yuen2017 G
ADCY5     Li2017:15076chr3:
123019100-123019100
CTexonicUnknownnonsynonymous SNVNM_001199642
NM_183357
c.G1717A
c.G2767A
p.V573M
p.V923M
29.28.392E-6Li2017 T
ADCY5     13298.p1chr3:
123142078-123142078
GAintronicDe novo--Turner2016 G
ADCY5     2-1275-003chr3:
123163509-123163509
TAintronicDe novo--Yuen2017 G
ADCY5     2-1275-003chr3:
123161462-123161462
TAintronicDe novo--Yuen2017 G
ADCY5     2-0704-003chr3:
123114207-123114207
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY5     2-1313-003chr3:
123206215-123206215
CTintergenicDe novo--Yuen2017 G
ADCY5     SSC05372chr3:
123049782-123049782
CTexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.G550A
c.G1600A
p.A184T
p.A534T
37.0-Lim2017 E
ADCY5     AU1640302chr3:
123207728-123207728
CAintergenicDe novo--Yuen2017 G
ADCY5     Lim2017:4900chr3:
123046605-123046605
GAexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.C757T
c.C1807T
p.R253C
p.R603C
23.21.661E-5Lim2017 E
ADCY5     05HI3915Achr3:
123044231-123044231
CTexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.G976A
c.G2026A
p.A326T
p.A676T
14.93-Satterstrom2020 E
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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