Variant Results

or

Results for "ADCY10"

Variant Events: 34

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

2-0318-003

chr1:
167855224-167855224

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY10

13043.p1

chr1:
167870958-167870958

G

A

exonic

De novo

synonymous SNV

NM_001297772
NM_018417

c.C102T
c.C378T

p.I34I
p.I126I

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ADCY10

13939.p1

chr1:
167815087-167815087

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_001167749
NM_001297772
NM_018417

c.C2262T
c.C2445T
c.C2721T

p.H754H
p.H815H
p.H907H

-

1.648E-5

Dou2017 E
Krumm2015 E
Zhou2022 GE

ADCY10

1-1000-003

chr1:
167822820-167822820

G

A

intronic

De novo

-

Yuen2017 G

ADCY10

1-0556-003

chr1:
167820216-167820216

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY10

AU2029303

chr1:
167808147-167808147

G

T

intronic

De novo

-

Yuen2017 G

ADCY10

SSC06754

chr1:
167870958-167870958

G

A

exonic

De novo

synonymous SNV

NM_001297772
NM_018417

c.C102T
c.C378T

p.I34I
p.I126I

-

Fu2022 E
Lim2017 E
Trost2022 G

ADCY10

SSC09641

chr1:
167815087-167815087

G

A

exonic

Mosaic

synonymous SNV

NM_001167749
NM_001297772
NM_018417

c.C2262T
c.C2445T
c.C2721T

p.H754H
p.H815H
p.H907H

-

1.648E-5

Lim2017 E

ADCY10

SP0075797

chr1:
167830083-167830083

G

A

intronic

De novo

-

1.648E-5

Fu2022 E

ADCY10

SP0074777

chr1:
167815470-167815470

T

C

exonic

De novo

synonymous SNV

NM_001167749
NM_001297772
NM_018417

c.A2010G
c.A2193G
c.A2469G

p.R670R
p.R731R
p.R823R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ADCY10

AU4219302

chr1:
167856376-167856376

C

T

intronic

De novo

-

Yuen2017 G

ADCY10

SP0000665

chr1:
167849419-167849419

T

C

exonic

De novo

nonsynonymous SNV

NM_001167749
NM_001297772
NM_018417

c.A691G
c.A874G
c.A1150G

p.I231V
p.I292V
p.I384V

9.994

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ADCY10

SP0159525

chr1:
167780059-167780059

C

T

exonic

De novo

nonsynonymous SNV

NM_001167749
NM_001297772
NM_018417

c.G4115A
c.G4298A
c.G4574A

p.G1372E
p.G1433E
p.G1525E

15.04

-

Trost2022 G

ADCY10

2-1801-003

chr1:
167810090-167810090

T

C

intronic

De novo

-

Trost2022 G

ADCY10

1-0233-004

chr1:
167845701-167845701

T

G

intronic

De novo

-

Yuen2017 G

ADCY10

MSSNG00362-003

chr1:
167805917-167805917

C

T

intronic

De novo

-

Trost2022 G

ADCY10

SP0037987

chr1:
167873119-167873119

A

C

intronic

De novo

-

Fu2022 E

ADCY10

SP0073804

chr1:
167847636-167847636

C

T

intronic

De novo

-

Fu2022 E

ADCY10

AU076509

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ADCY10

A31

chr1:
167864287-167864287

G

T

intronic

De novo

-

Wu2018 G

ADCY10

MSSNG00104-003

chr1:
167871636-167871636

G

A

intronic

De novo

-

Trost2022 G

ADCY10

1-1000-003A

chr1:
167822820-167822820

G

A

intronic

De novo

-

Trost2022 G

ADCY10

mAGRE2466

chr1:
167792245-167792245

C

T

splicing

Paternal

splicing

15.61

-

Cirnigliaro2023 G

ADCY10

mAGRE5361

chr1:
167787354-167787354

C

A

exonic

Paternal

stopgain

NM_001167749
NM_001297772
NM_018417

c.G3979T
c.G4162T
c.G4438T

p.E1327X
p.E1388X
p.E1480X

40.0

-

Cirnigliaro2023 G

ADCY10

mAGRE5360

chr1:
167787354-167787354

C

A

exonic

Paternal

stopgain

NM_001167749
NM_001297772
NM_018417

c.G3979T
c.G4162T
c.G4438T

p.E1327X
p.E1388X
p.E1480X

40.0

-

Cirnigliaro2023 G

ADCY10

2-1386-003

chr1:
167800490-167800490

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ADCY10

iHART2145

chr1:
167814800-167814801

CT

C

exonic

Maternal

frameshift deletion

NM_001167749
NM_001297772
NM_018417

c.2548delA
c.2731delA
c.3007delA

p.T850fs
p.T911fs
p.T1003fs

-

Ruzzo2019 G

ADCY10

iHART2468

chr1:
167792245-167792245

C

T

splicing

Paternal

splicing

15.61

-

Ruzzo2019 G

ADCY10

AU3399303

chr1:
167844379-167844379

G

T

exonic

Paternal

stopgain

NM_001167749
NM_001297772
NM_018417

c.C993A
c.C1176A
c.C1452A

p.Y331X
p.Y392X
p.Y484X

37.0

8.24E-6

Cirnigliaro2023 G

ADCY10

AU2029302

chr1:
167808147-167808147

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY10

AU3399302

chr1:
167844379-167844379

G

T

exonic

Paternal

stopgain

NM_001167749
NM_001297772
NM_018417

c.C993A
c.C1176A
c.C1452A

p.Y331X
p.Y392X
p.Y484X

37.0

8.24E-6

Cirnigliaro2023 G

ADCY10

iHART2466

chr1:
167792245-167792245

C

T

splicing

Paternal

splicing

15.61

-

Ruzzo2019 G

ADCY10

mAGRE2145

chr1:
167814800-167814801

CT

C

exonic

Maternal

frameshift deletion

NM_001167749
NM_001297772
NM_018417

c.2548delA
c.2731delA
c.3007delA

p.T850fs
p.T911fs
p.T1003fs

-

Cirnigliaro2023 G

ADCY10

mAGRE2468

chr1:
167792245-167792245

C

T

splicing

Paternal

splicing

15.61

-

Cirnigliaro2023 G

Source Variant Information

, -

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 notes	View
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