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Results for "DNM1"

Variant Events: 15

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
DNM1     1-0051-005chr9:
130989699-130989701
TGCTintronicDe novo--Yuen2017 G
DNM1     GD0144.p1chr9:
130986594-130986594
CTexonicPaternalunknown39.01.649E-5Wang2020 T
Wang2020 T
DNM1     66027855chr9:
130984515-130984515
CTexonicUnknownunknown23.6-Wang2020 T
Wang2020 T
DNM1     05C49753chr9:
130980547-130980547
CTexonicUnknownunknown27.58.238E-6Wang2020 T
Wang2020 T
DNM1     09C86151chr9:
130982537-130982537
CTexonicPaternalunknown37.0-Wang2020 T
Wang2020 T
DNM1     U6V9Gchr9:
131004574-131004574
TTAexonicPaternalunknown--Wang2020 T
Wang2020 T
DNM1     Mahjani2021:31chr9:
130981510-130981510
GTexonicunknown36.0-Mahjani2021 E
DNM1     305682chr9:
130984515-130984515
CTexonicUnknownunknown23.6-Wang2020 T
Wang2020 T
Wang2020 T
DNM1     SP0023009chr9:
131004613-131004613
AGexonicDe novounknown19.81-Feliciano2019 E
DNM1     M13323chr9:
130988369-130988369
CTexonicUnknownunknown33.0-Wang2020 T
Wang2020 T
DNM1     HN0153.p1chr9:
130985097-130985097
GAexonicMaternalunknown21.4-Wang2020 T
Wang2020 T
DNM1     69746691chr9:
130986624-130986624
GAexonicUnknownunknown36.0-Wang2020 T
Wang2020 T
DNM1     13965.p1chr9:
131013111-131013111
TTGexonicDe novounknown--Turner2017 G
Wilfert2021 G
DNM1     GX0636.p1chr9:
130986601-130986601
CTexonicUnknownunknown28.7-Wang2020 T
Wang2020 T
DNM1     7-0128-003chr9:
130981729-130981729
CTintronicDe 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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