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Results for "DTWD2"

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
DTWD2     5-0105-003chr5:
118193580-118193580
GAintronicDe novo--Trost2022 G
Yuen2017 G
DTWD2     1-0121-003chr5:
118395100-118395111
CATATAATATAACATATAAintergenicDe novo--Yuen2017 G
DTWD2     1-0255-003chr5:
118328072-118328072
CTintergenicDe novo--Yuen2017 G
DTWD2     1-0300-004chr5:
118379476-118379476
CGintergenicDe novo--Yuen2017 G
DTWD2     2-1444-003chr5:
118255430-118255430
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DTWD2     2-1086-003chr5:
118355792-118355792
CTintergenicDe novo--Yuen2017 G
DTWD2     7-0354-004chr5:
118182281-118182281
GAintronicDe novo--Trost2022 G
DTWD2     1-0358-003chr5:
118314742-118314742
AGintronicDe novo--Yuen2017 G
DTWD2     7-0161-003chr5:
118399437-118399437
GAintergenicDe novo--Yuen2017 G
DTWD2     SMHC00831dfs0chr5:
118264401-118264401
CGexonicDe novononsynonymous SNVNM_001308081
NM_173666
c.G230C
c.G428C
p.C77S
p.C143S
21.1-Yuan2023 E
DTWD2     3-0476-000chr5:
118286318-118286318
GAintronicDe novo--Trost2022 G
DTWD2     MSSNG00044-003chr5:
118251207-118251207
ACintronicDe novo--Trost2022 G
DTWD2     2-0007-003chr5:
118380535-118380535
GAintergenicDe novo--Yuen2017 G
DTWD2     4-0074-003chr5:
118284855-118284856
AAGGintronicDe novo--Trost2022 G
DTWD2     2-1519-006chr5:
118230751-118230751
ACintronicDe novo--Trost2022 G
DTWD2     1-0206-004chr5:
118324214-118324214
ACUTR5De novo--Trost2022 G
Yuen2017 G
DTWD2     SJD_27.3chr5:
118235797-118235797
CTintronicDe novo--Trost2022 G
DTWD2     1-0671-003chr5:
118194930-118194930
TAintronicDe novo--Trost2022 G
DTWD2     4-0062-003chr5:
118208487-118208488
CGTTintronicDe 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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