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Results for "DNM3"

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
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--Yuen2017 G
DNM3     2-1362-004chr1:
171905987-171905987
GGAintronicDe novo--Yuen2017 G
DNM3     2-1117-003chr1:
171873194-171873194
TAintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     2-0012-004chr1:
171906024-171906024
TAintronicDe novo--Yuen2017 G
DNM3     2-1153-003chr1:
172322736-172322736
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     2-1252-003chr1:
172330650-172330650
TCintronicDe novo--Yuen2017 G
DNM3     2-1266-003chr1:
172084189-172084189
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     AU4376301chr1:
171869971-171869971
CTintronicDe novo--Yuen2017 G
DNM3     2-1579-003chr1:
171877868-171877868
GAintronicDe novo--Yuen2017 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
--Satterstrom2020 E
DNM3     2-1250-003chr1:
172043854-172043854
CTintronicDe novo--Yuen2017 G
DNM3     1-0972-003chr1:
172227604-172227610
GTTTTTTGTTTTTintronicDe novo--Yuen2017 G
DNM3     2-0309-004chr1:
172386518-172386518
TAintergenicDe novo--Yuen2017 G
DNM3     2-1086-004chr1:
172064370-172064370
AGintronicDe novo--Yuen2017 G
DNM3     AU4444304chr1:
172356720-172356720
ATintronicDe novo--Yuen2017 G
DNM3     1-0359-003chr1:
172140079-172140079
GAintronicDe novo--Yuen2017 G
DNM3     1-0593-003chr1:
172143447-172143447
ACintronicDe novo--Yuen2017 G
DNM3     AU047703chr1:
171873101-171873101
TCintronicDe novo--Yuen2017 G
DNM3     3-0216-000chr1:
172281144-172281144
TAintronicDe novo--Yuen2017 G
DNM3     2-1255-003chr1:
172103797-172103797
GTintronicDe novo--Yuen2016 G
Yuen2017 G
DNM3     5-0125-003chr1:
172025298-172025298
GCintronicDe novo--Yuen2017 G
DNM3     5-0148-003chr1:
172129077-172129078
CTCintronicDe novo--Yuen2017 G
DNM3     1-0196-005chr1:
172129647-172129647
GCintronicDe novo--Yuen2017 G
DNM3     5-0125-003chr1:
172024897-172024897
CAintronicDe novo--Yuen2017 G
DNM3     1-0585-003chr1:
171892397-171892397
ATintronicDe novo--Yuen2017 G
DNM3     AU4462302chr1:
172330813-172330813
GCintronicDe novo--Yuen2017 G
DNM3     1-0567-004chr1:
172152616-172152616
CAintronicDe novo--Yuen2017 G
DNM3     AU017703chr1:
172046161-172046161
AGintronicDe novo--Yuen2017 G
DNM3     1-0874-003chr1:
172271752-172271752
CAintronicDe novo--Yuen2017 G
DNM3     1-0597-003chr1:
172330678-172330678
AGintronicDe novo--Yuen2017 G
DNM3     1-0279-004chr1:
171906024-171906024
TAintronicDe novo--Yuen2017 G
DNM3     5-0003-004chr1:
172019098-172019098
ACintronicDe novo--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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