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Results for "ADCY10"

Variant Events: 18

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
ADCY10     SP0000665chr1:
167849419-167849419
TCexonicDe novononsynonymous SNVNM_001167749
NM_001297772
NM_018417
c.A691G
c.A874G
c.A1150G
p.I231V
p.I292V
p.I384V
9.994-Feliciano2019 E
ADCY10     1-0233-004chr1:
167845701-167845701
TGintronicDe novo--Yuen2017 G
ADCY10     2-0318-003chr1:
167855224-167855224
TGintronicDe novo--Yuen2017 G
ADCY10     13043.p1chr1:
167870958-167870958
GAexonicDe novosynonymous SNVNM_001297772
NM_018417
c.C102T
c.C378T
p.I34I
p.I126I
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ADCY10     AU076509chr1:
167835219-167835221
CAACAintronicDe novo--Yuen2017 G
ADCY10     A31chr1:
167864287-167864287
GTintronicDe novo--Wu2018 G
ADCY10     13939.p1chr1:
167815087-167815087
GAexonicMosaic, De novosynonymous SNVNM_001167749
NM_001297772
NM_018417
c.C2262T
c.C2445T
c.C2721T
p.H754H
p.H815H
p.H907H
-1.648E-5Dou2017 E
Krumm2015 E
ADCY10     1-1000-003chr1:
167822820-167822820
GAintronicDe novo--Yuen2017 G
ADCY10     1-0556-003chr1:
167820216-167820216
TAintronicDe novo--Yuen2017 G
ADCY10     AU2029303chr1:
167808147-167808147
GTintronicDe novo--Yuen2017 G
ADCY10     2-1386-003chr1:
167800490-167800490
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ADCY10     SSC06754chr1:
167870958-167870958
GAexonicDe novosynonymous SNVNM_001297772
NM_018417
c.C102T
c.C378T
p.I34I
p.I126I
--Lim2017 E
ADCY10     SSC09641chr1:
167815087-167815087
GAexonicMosaicsynonymous SNVNM_001167749
NM_001297772
NM_018417
c.C2262T
c.C2445T
c.C2721T
p.H754H
p.H815H
p.H907H
-1.648E-5Lim2017 E
ADCY10     iHART2145chr1:
167814800-167814801
CTCexonicMaternalframeshift deletionNM_001167749
NM_001297772
NM_018417
c.2548delA
c.2731delA
c.3007delA
p.T850fs
p.T911fs
p.T1003fs
--Ruzzo2019 G
ADCY10     iHART2468chr1:
167792245-167792245
CTsplicingPaternalsplicing15.61-Ruzzo2019 G
ADCY10     AU2029302chr1:
167808147-167808147
GTintronicDe novo--Yuen2017 G
ADCY10     AU4219302chr1:
167856376-167856376
CTintronicDe novo--Yuen2017 G
ADCY10     iHART2466chr1:
167792245-167792245
CTsplicingPaternalsplicing15.61-Ruzzo2019 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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