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Results for "DNM1"

Variant Events: 23

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     AGRE_05C49753chr9:
130980547-130980547		CTexonicUnknownunknown27.58.238E-6Wang2020 T
DNM1     1-0051-005chr9:
130989699-130989701		TGCTintronicDe novo--Trost2022 G
Yuen2017 G
DNM1     Gecz1_24330chr9:
130982559-130982559		CTexonicUnknownunknown29.4-Wang2020 T
DNM1     Mahjani2021:31chr9:
130981510-130981510		GTexonicunknown36.0-Mahjani2021 E
DNM1     mAGRE5211chr9:
130984817-130984818		CACexonicPaternalunknown--Cirnigliaro2023 G
DNM1     mAGRE5974chr9:
130982537-130982537		CTexonicPaternalunknown37.0-Cirnigliaro2023 G
DNM1     SP0217526chr9:
130980957-130980957		CTexonicDe novounknown19.83-Trost2022 G
DNM1     ACGC_M13323chr9:
130988369-130988369		CTexonicUnknownunknown33.0-Wang2020 T
DNM1     Leuven2_69746691chr9:
130986624-130986624		GAexonicUnknownunknown36.0-Wang2020 T
DNM1     SSC07684chr9:
130982273-130982273		GTexonicDe novounknown33.0-Fu2022 E
DNM1     SP0023009chr9:
131004613-131004613		AGexonicDe novounknown19.81-Feliciano2019 E
Fu2022 E
Zhou2022 GE
DNM1     SanDiego_U6V9Gchr9:
131004574-131004574		TTAexonicPaternalunknown--Wang2020 T
DNM1     ACGC_GX0636.p1chr9:
130986601-130986601		CTexonicUnknownunknown28.7-Wang2020 T
DNM1     Leuven_305682chr9:
130984515-130984515		CTexonicUnknownunknown23.6-Wang2020 T
DNM1     ACGC_GD0144.p1chr9:
130986594-130986594		CTexonicPaternalunknown39.01.649E-5Wang2020 T
DNM1     Leuven2_66027855chr9:
130984515-130984515		CTexonicUnknownunknown23.6-Wang2020 T
DNM1     ACGC_HN0153.p1chr9:
130985097-130985097		GAexonicMaternalunknown21.4-Wang2020 T
DNM1     AGRE_09C86151chr9:
130982537-130982537		CTexonicPaternalunknown37.0-Wang2020 T
DNM1     SSC10017chr9:
131013111-131013111		TTGexonicunknown--Antaki2022 GE
DNM1     SP0115123chr9:
131002237-131002237		GAintronicDe novo-7.413E-5Fu2022 E
Trost2022 G
DNM1     Gecz4_25488chr9:
130982559-130982559		CTexonicUnknownunknown29.4-Wang2020 T
DNM1     13965.p1chr9:
131013111-131013111		TTGexonicDe novounknown--Turner2017 G
Wilfert2021 G
DNM1     7-0128-003chr9:
130981729-130981729		CTintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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.
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