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Results for "TMPRSS2"

Variant Events: 15

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
TMPRSS2     AU057405chr21:
42886031-42886031
CTintergenicDe novo--Yuen2017 G
TMPRSS2     5-0064-003chr21:
43062264-43062264
CTintergenicDe novo--Yuen2017 G
TMPRSS2     1-0252-003chr21:
43092897-43092897
AACACACACACAAACCACACACACACCACAAACACintergenicDe novo--Yuen2017 G
Yuen2017 G
TMPRSS2     2-0240-004chr21:
43023335-43023335
AAGGintergenicDe novo--Yuen2017 G
TMPRSS2     AU054303chr21:
42868928-42868928
CTintronicDe novo--Yuen2017 G
TMPRSS2     1-0206-005chr21:
43092974-43092974
TCintergenicDe novo--Yuen2017 G
TMPRSS2     2-1235-004chr21:
43018258-43018258
GAintergenicDe novo--Yuen2017 G
TMPRSS2     1-0498-003chr21:
42849881-42849881
GTintronicDe novo--Yuen2017 G
TMPRSS2     1-0299-003chr21:
43005658-43005658
AACintergenicDe novo--Yuen2017 G
TMPRSS2     3-0307-000chr21:
42873763-42873763
CTintronicDe novo--Yuen2017 G
TMPRSS2     7-0032-003chr21:
43049501-43049501
CTintergenicDe novo--Yuen2017 G
TMPRSS2     11013.p1chr21:
42842590-42842590
CTexonicDe novononsynonymous SNVNM_001135099
NM_005656
c.G1267A
c.G1156A
p.A423T
p.A386T
13.782.53E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
TMPRSS2     1-0271-004chr21:
43010400-43010400
GAintergenicDe novo--Yuen2017 G
TMPRSS2     1-0273-004chr21:
42870210-42870210
GTintronicDe novo--Yuen2017 G
TMPRSS2     1-0756-004chr21:
43092921-43092921
TCintergenicDe 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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