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Results for "DNM1L"

Variant Events: 10

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
DNM1L     AU1909304chr12:
32891141-32891141
CGintronicDe novo--Yuen2017 G
DNM1L     AU4093301chr12:
32843945-32843945
CGintronicDe novo--Yuen2017 G
DNM1L     1-0566-003chr12:
32844400-32844400
AGintronicDe novo--Yuen2017 G
DNM1L     AU4093301chr12:
32845388-32845388
ACintronicDe novo--Yuen2017 G
DNM1L     7-0023-003chr12:
32861133-32861136
CAGACAexonicDe novoframeshift deletionNM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
c.346_347del
c.346_347del
c.346_347del
c.346_347del
c.385_386del
c.385_386del
p.E116fs
p.E116fs
p.E116fs
p.E116fs
p.E129fs
p.E129fs
--Yuen2017 G
DNM1L     Li2017:23202chr12:
32866197-32866197
CAexonicUnknownnonsynonymous SNVNM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
c.C511A
c.C511A
c.C511A
c.C511A
c.C550A
c.C550A
p.L171I
p.L171I
p.L171I
p.L171I
p.L184I
p.L184I
16.988.239E-6Li2017 T
DNM1L     11657.p1chr12:
32871609-32871609
GAexonicMosaicnonsynonymous SNVNM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
c.G652A
c.G652A
c.G652A
c.G652A
c.G691A
c.G691A
p.D218N
p.D218N
p.D218N
p.D218N
p.D231N
p.D231N
36.0-Dou2017 E
DNM1L     11152.p1chr12:
32896251-32896251
AATAATAAGCATTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNM1L     iHART1192chr12:
32875384-32875385
ATAexonicMaternalframeshift deletionNM_001278466
NM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
c.288delT
c.897delT
c.897delT
c.897delT
c.897delT
c.936delT
c.936delT
p.D96fs
p.D299fs
p.D299fs
p.D299fs
p.D299fs
p.D312fs
p.D312fs
--Ruzzo2019 G
DNM1L     1-0483-003chr12:
32842868-32842868
TGintronicDe 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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