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Results for "DNM1L"

Variant Events: 19

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     AU4093301chr12:
32843945-32843945		CGintronicDe novo--Trost2022 G
Yuen2017 G
DNM1L     1-0566-003chr12:
32844400-32844400		AGintronicDe novo--Trost2022 G
Yuen2017 G
DNM1L     AU4093301chr12:
32845388-32845388		ACintronicDe novo--Trost2022 G
Yuen2017 G
DNM1L     SP0226811chr12:
32893455-32893455		TGintronicDe novo--Trost2022 G
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
Trost2022 G
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     AU1909304chr12:
32891141-32891141		CGintronicDe novo--Trost2022 G
Yuen2017 G
DNM1L     7-0023-003 Complex Event; expand row to view variants  De novoframeshift deletionNM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
NM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465		c.345_346del
c.345_346del
c.345_346del
c.345_346del
c.384_385del
c.384_385del
c.346_347del
c.346_347del
c.346_347del
c.346_347del
c.385_386del
c.385_386del		p.T115fs
p.T115fs
p.T115fs
p.T115fs
p.T128fs
p.T128fs
p.E116fs
p.E116fs
p.E116fs
p.E116fs
p.E129fs
p.E129fs		-4.284E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
DNM1L     SP0165577chr12:
32893455-32893455		TGintronicDe novo--Trost2022 G
DNM1L     SP0193519chr12:
32893455-32893455		TGintronicDe novo--Trost2022 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     SP0089939chr12:
32893455-32893455		TGintronicDe novo--Trost2022 G
DNM1L     SP0130957chr12:
32893455-32893455		TGintronicDe novo--Trost2022 G
DNM1L     5-0009-003chr12:
32880352-32880352		CTintronicDe novo--Trost2022 G
DNM1L     SP0053638chr12:
32893455-32893455		TGintronicDe novo--Trost2022 G
DNM1L     mAGRE1192chr12:
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		--Cirnigliaro2023 G
DNM1L     1-0483-003chr12:
32842868-32842868		TGintronicDe novo--Trost2022 G
Yuen2017 G
DNM1L     AU2463301chr12:
32877674-32877674		GAintronicDe novo--Trost2022 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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