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Results for "THUMPD2"

Variant Events: 16

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
THUMPD2     1-0998-003chr2:
40056339-40056339
GAintergenicDe novo--Yuen2017 G
THUMPD2     1-0756-004chr2:
40115547-40115547
CGintergenicDe novo--Yuen2017 G
THUMPD2     1-0265-004chr2:
39994777-39994777
CCAGATAAGAintronicDe novo--Yuen2017 G
THUMPD2     2-0057-004chr2:
39976309-39976315
TGCATAATintronicDe novo--Yuen2017 G
THUMPD2     5-0055-003chr2:
39994784-39994784
GGAintronicDe novo--Yuen2017 G
THUMPD2     12123.p1chr2:
39993279-39993279
GTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
THUMPD2     AU073003chr2:
40085546-40085546
AGintergenicDe novo--Yuen2017 G
THUMPD2     A13chr2:
39967780-39967780
GAintronicDe novo--Wu2018 G
THUMPD2     AU066403chr2:
40020198-40020198
AGintergenicDe novo--Yuen2017 G
THUMPD2     AU017304chr2:
40084125-40084125
CAintergenicDe novo--Yuen2017 G
THUMPD2     13069.p1chr2:
40047126-40047127
TGAAintergenicDe novo--Turner2016 G
THUMPD2     iHART2171chr2:
39995563-39995563
CTsplicingMaternalsplicing17.578.251E-6Ruzzo2019 G
THUMPD2     2-1086-003chr2:
40011457-40011457
AGintergenicDe novo--Yuen2017 G
THUMPD2     1-0265-003chr2:
39994777-39994777
CCAGATAAGAintronicDe novo--Yuen2017 G
THUMPD2     2-0057-003chr2:
39976309-39976315
TGCATAATintronicDe novo--Yuen2017 G
THUMPD2     AU4032307chr2:
39996633-39996633
GCintronicDe 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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