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Results for "DNM3"

Variant Events: 80

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
DNM3     iHART1080chr1:
172002403-172002403
CTexonicPaternalstopgainNM_001136127
NM_001278252
NM_015569
c.C847T
c.C847T
c.C847T
p.Q283X
p.Q283X
p.Q283X
39.0-Ruzzo2019 G
DNM3     1-0059-003chr1:
171905987-171905987
GGAintronicDe novo--Yuen2017 G
DNM3     1-0119-004chr1:
172150148-172150148
CTintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-1362-004chr1:
171905987-171905987
GGAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-0012-004chr1:
171906024-171906024
TAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     AU4376301chr1:
171869971-171869971
CTintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-1250-003chr1:
172043854-172043854
CTintronicDe novo--Yuen2017 G
DNM3     2-0309-004chr1:
172386518-172386518
TAintergenicDe novo--Trost2022 G
Yuen2017 G
DNM3     AU4444304chr1:
172356720-172356720
ATintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     AU047703chr1:
171873101-171873101
TCintronicDe novo--Yuen2017 G
DNM3     5-0125-003chr1:
172025298-172025298
GCintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     5-0125-003chr1:
172024897-172024897
CAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0585-003chr1:
171892397-171892397
ATintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0874-003chr1:
172271752-172271752
CAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0279-004chr1:
171906024-171906024
TAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-1117-003chr1:
171873194-171873194
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DNM3     2-1153-003chr1:
172322736-172322736
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DNM3     2-1252-003chr1:
172330650-172330650
TCintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-1266-003chr1:
172084189-172084189
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     2-1579-003chr1:
171877868-171877868
GAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     7-0442-003chr1:
171841689-171841689
AGintronicDe novo--Trost2022 G
DNM3     EGAN00001101233chr1:
171956830-171956830
AGexonicDe novosynonymous SNVNM_001136127
NM_001278252
NM_015569
c.A270G
c.A270G
c.A270G
p.K90K
p.K90K
p.K90K
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DNM3     3-0539-000chr1:
171880825-171880825
CTintronicDe novo--Trost2022 G
DNM3     1-0972-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DNM3     2-1362-003chr1:
171848973-171848975
CATACintronicDe novo--Trost2022 G
DNM3     mAGRE1080chr1:
172002403-172002403
CTexonicPaternalstopgainNM_001136127
NM_001278252
NM_015569
c.C847T
c.C847T
c.C847T
p.Q283X
p.Q283X
p.Q283X
39.0-Cirnigliaro2023 G
DNM3     2-1086-004chr1:
172064370-172064370
AGintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0862-003chr1:
171905987-171905987
GGAintronicDe novo--Trost2022 G
DNM3     2-1620-004chr1:
171905985-171905985
TCintronicDe novo--Trost2022 G
DNM3     1-0359-003chr1:
172140079-172140079
GAintronicDe novo--Yuen2017 G
DNM3     1-0593-003chr1:
172143447-172143447
ACintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     2-1620-004chr1:
171905987-171905987
GGAintronicDe novo--Trost2022 G
DNM3     1-0147-003chr1:
171905987-171905987
GGAintronicDe novo--Trost2022 G
DNM3     2-0007-004chr1:
171905985-171905985
TCintronicDe novo--Trost2022 G
DNM3     3-0216-000chr1:
172281144-172281144
TAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0862-003chr1:
171905976-171905982
AAAACTTGCAGCAGintronicDe novo--Trost2022 G
DNM3     2-1255-003chr1:
172103797-172103797
GTintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     1-0147-003chr1:
171905985-171905985
TCintronicDe novo--Trost2022 G
DNM3     1-0862-003chr1:
171905985-171905985
TCintronicDe novo--Trost2022 G
DNM3     MT_37.3chr1:
171996869-171996869
TCintronicDe novo--Trost2022 G
DNM3     5-0148-003chr1:
172129077-172129078
CTCintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0169-004chr1:
171952544-171952548
ACCTCTGATGintronicDe novo--Trost2022 G
DNM3     1-1103-003chr1:
172018167-172018167
ACintronicDe novo--Trost2022 G
DNM3     1-0760-004chr1:
172009630-172009630
CTintronicDe novo--Trost2022 G
DNM3     1-0601-003chr1:
171917975-171917975
AGintronicDe novo--Trost2022 G
DNM3     2-1437-004chr1:
171905987-171905987
GGAintronicDe novo--Trost2022 G
DNM3     1-0196-005chr1:
172129647-172129647
GCintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     1-0382-004chr1:
171952523-171952526
AGGACTACTTintronicDe novo--Trost2022 G
DNM3     MSSNG00249-003chr1:
171946360-171946360
CTintronicDe novo--Trost2022 G
DNM3     3-0107-001chr1:
172136313-172136313
GAintronicDe novo--Trost2022 G
DNM3     7-0416-003chr1:
172082344-172082344
GTintronicDe novo--Trost2022 G
DNM3     7-0059-003chr1:
172149516-172149516
CTintronicDe novo--Trost2022 G
DNM3     1-0903-003chr1:
172136322-172136322
TAintronicDe novo--Trost2022 G
DNM3     AU4462302chr1:
172330813-172330813
GCintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     REACH000150chr1:
172023592-172023592
GCintronicDe novo--Trost2022 G
DNM3     7-0094-004chr1:
172021849-172021849
CTintronicDe novo--Trost2022 G
DNM3     1-0628-004Achr1:
172077127-172077127
CTintronicDe novo--Trost2022 G
DNM3     MSSNG00106-003chr1:
172042941-172042941
GAintronicDe novo--Trost2022 G
DNM3     7-0438-003chr1:
172264877-172264877
GCintronicDe novo--Trost2022 G
DNM3     3-0607-000chr1:
172255966-172255966
GCintronicDe novo--Trost2022 G
DNM3     MSSNG00380-003chr1:
172267754-172267754
TCintronicDe novo--Trost2022 G
DNM3     1-0567-004chr1:
172152616-172152616
CAintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     3-0832-000chr1:
172267458-172267458
CTintronicDe novo--Trost2022 G
DNM3     5-2005-003chr1:
172216757-172216757
CTintronicDe novo--Trost2022 G
DNM3     1-0568-003chr1:
172149516-172149516
CTintronicDe novo--Trost2022 G
DNM3     3-0866-000chr1:
172255061-172255061
CTintronicDe novo--Trost2022 G
DNM3     AU017703chr1:
172046161-172046161
AGintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     REACH000529chr1:
172227303-172227303
CTintronicDe novo--Trost2022 G
DNM3     REACH000349chr1:
172352416-172352416
CTintronicDe novo--Trost2022 G
DNM3     4-0094-003chr1:
172351814-172351814
GAintronicDe novo--Trost2022 G
DNM3     2-0171-003chr1:
172386518-172386518
TAintergenicDe novo--Trost2022 G
DNM3     1-0628-004Achr1:
172370715-172370715
CTintronicDe novo--Trost2022 G
DNM3     4-0062-003chr1:
172337158-172337159
GATTintronicDe novo--Trost2022 G
DNM3     1-0079-004chr1:
172332430-172332430
GCintronicDe novo--Trost2022 G
DNM3     REACH000349chr1:
172347948-172347948
CGintronicDe novo--Trost2022 G
DNM3     1-0597-003chr1:
172330678-172330678
AGintronicDe novo--Trost2022 G
Yuen2017 G
DNM3     REACH000349chr1:
172347927-172347927
TGintronicDe novo--Trost2022 G
DNM3     2-1076-004chr1:
172387538-172387538
GAintergenicDe novo--Trost2022 G
DNM3     2-1362-004chr1:
172386521-172386521
CGintergenicDe novo--Trost2022 G
DNM3     5-0003-004chr1:
172019098-172019098
ACintronicDe novo--Trost2022 G
Yuen2017 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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