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Results for "DIDO1"

Variant Events: 8

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
DIDO1     13766.p1chr20:
61512743-61512743
GAexonicDe novononsynonymous SNVNM_001193369
NM_033081
c.C4565T
c.C4565T
p.S1522F
p.S1522F
19.15-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
DIDO1     2-0126-003chr20:
61511208-61511208
GAexonicDe novononsynonymous SNVNM_001193369
NM_033081
c.C6100T
c.C6100T
p.P2034S
p.P2034S
13.01-Yuen2015 G
DIDO1     AU4269301chr20:
61548689-61548689
GAintronicDe novo--Yuen2017 G
DIDO1     AU4250301chr20:
61536453-61536453
TCUTR3De novo--Yuen2017 G
DIDO1     AU4159301chr20:
61533486-61533486
GCintronicDe novo--Yuen2017 G
DIDO1     iHART1705chr20:
61542291-61542291
AACexonicPaternalframeshift insertionNM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
--Ruzzo2019 G
DIDO1     203-08-109922chr20:
61510573-61510573
CTUTR3De novo--Satterstrom2020 E
DIDO1     iHART1704chr20:
61542291-61542291
AACexonicPaternalframeshift insertionNM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
--Ruzzo2019 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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