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Results for "DNM2"

Variant Events: 14

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
DNM2     11676.p1chr19:
10904539-10904539
CAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNM2     7-0024-003chr19:
10937307-10937307
AGintronicDe novo--Yuen2017 G
DNM2     1-0051-004chr19:
10937307-10937307
AGintronicDe novo--Yuen2017 G
DNM2     1-0401-003chr19:
10937307-10937307
AGintronicDe novo--Yuen2017 G
DNM2     SJD_50chr19:
10906796-10906796
ACexonicPaternalnonsynonymous SNVNM_001005360
NM_001190716
NM_004945
c.A1256C
c.A1256C
c.A1256C
p.K419T
p.K419T
p.K419T
24.9-Toma2013 E
DNM2     2-1629-003chr19:
10855853-10855853
CTintronicDe novo--Yuen2017 G
DNM2     AU2433303chr19:
10858969-10858969
CTintronicDe novo--Yuen2017 G
DNM2     Torti2019:7chr19:
10922947-10922947
GTexonicUnknownnonsynonymous SNVNM_001005362
NM_004945
NM_001005360
NM_001005361
NM_001190716
c.G1553T
c.G1553T
c.G1565T
c.G1565T
c.G1565T
p.R518L
p.R518L
p.R522L
p.R522L
p.R522L
34.0-Torti2019 T
DNM2     5-0033-004chr19:
10937307-10937307
AGintronicDe novo--Yuen2017 G
DNM2     1-0446-003chr19:
10937307-10937307
AGintronicDe novo--Yuen2017 G
DNM2     1-0986-003chr19:
10893647-10893647
GAexonicDe novononsynonymous SNVNM_001005360
NM_001005361
NM_001005362
NM_001190716
NM_004945
c.G700A
c.G700A
c.G700A
c.G700A
c.G700A
p.V234M
p.V234M
p.V234M
p.V234M
p.V234M
26.86.651E-5Yuen2017 G
DNM2     1-0971-003chr19:
10874670-10874670
GAintronicDe novo--Yuen2017 G
DNM2     12498.p1chr19:
10842480-10842480
CTintronicDe novo--Turner2016 G
DNM2     2-0214-003chr19:
10937307-10937307
AGintronicDe 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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