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Results for "DTHD1"

Variant Events: 13

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
DTHD1     AU3124302chr4:
36385953-36385953
GCintergenicDe novo--Yuen2017 G
DTHD1     AU3124302chr4:
36386578-36386578
GAintergenicDe novo--Yuen2017 G
DTHD1     Cukier2014:37232chr4:
36340755-36340755
CAexonicUnknownnonsynonymous SNVNM_001136536
NM_001170700
c.C1492A
c.C1987A
p.P498T
p.P663T
20.10.0352Cukier2014 E
DTHD1     1-0320-004chr4:
36329485-36329485
CTintronicDe novo--Yuen2017 G
DTHD1     1-0092-003chr4:
36396448-36396448
GCintergenicDe novo--Yuen2017 G
DTHD1     2-1163-003chr4:
36293612-36293612
AGintronicDe novo--Yuen2017 G
DTHD1     2-1438-003chr4:
36320487-36320487
CTintronicDe novo--Yuen2016 G
Yuen2017 G
DTHD1     iHART1685chr4:
36285809-36285813
TTCTCTexonicMaternalframeshift deletionNM_001170700c.109_112delp.S37fs--Ruzzo2019 G
DTHD1     1-0300-004chr4:
36409605-36409605
TTGintergenicDe novo--Yuen2017 G
DTHD1     2-1250-003chr4:
36409604-36409604
TTGTTTTTTTGintergenicDe novo--Yuen2017 G
DTHD1     iHART2343chr4:
36292326-36292326
GTsplicingPaternalsplicing11.05.0E-4Ruzzo2019 G
DTHD1     iHART1682chr4:
36285809-36285813
TTCTCTexonicMaternalframeshift deletionNM_001170700c.109_112delp.S37fs--Ruzzo2019 G
DTHD1     SSC00901chr4:
36317866-36317866
AGexonicDe novononsynonymous SNVNM_001136536
NM_001170700
c.A1228G
c.A1723G
p.N410D
p.N575D
6.5384.717E-5Lim2017 E
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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