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Results for "TMPRSS5"

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
TMPRSS5     2-0244-003chr11:
113590573-113590573
GCintergenicDe novo--Yuen2017 G
TMPRSS5     1-0255-003chr11:
113586216-113586216
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMPRSS5     AU043804chr11:
113580641-113580648
CAAAAAAACAAAAAAAAintergenicDe novo--Yuen2017 G
TMPRSS5     iHART2071chr11:
113560952-113560952
CGsplicingPaternalsplicing13.46-Ruzzo2019 G
TMPRSS5     1-0466-003chr11:
113570141-113570141
CTintronicDe novo--Yuen2017 G
TMPRSS5     SP0018069chr11:
113560999-113560999
CCGexonicDe novoframeshift insertionNM_001288749
NM_001288752
NM_001288750
NM_001288751
NM_030770
c.820dupC
c.952dupC
c.1027dupC
c.1132dupC
c.1159dupC
p.R274fs
p.R318fs
p.R343fs
p.R378fs
p.R387fs
--Feliciano2019 E
TMPRSS5     iHART2070chr11:
113560952-113560952
CGsplicingPaternalsplicing13.46-Ruzzo2019 G
TMPRSS5     1-0509-003chr11:
113559801-113559801
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TMPRSS5     7-0008-003chr11:
113557890-113557890
GAdownstreamDe novo--Yuen2017 G
TMPRSS5     iHART2072chr11:
113560952-113560952
CGsplicingPaternalsplicing13.46-Ruzzo2019 G
TMPRSS5     iHART2281chr11:
113561056-113561056
ATexonicMaternalstopgainNM_001288749
NM_001288752
NM_001288750
NM_001288751
NM_030770
c.T764A
c.T896A
c.T971A
c.T1076A
c.T1103A
p.L255X
p.L299X
p.L324X
p.L359X
p.L368X
19.6-Ruzzo2019 G
TMPRSS5     iHART2280chr11:
113561056-113561056
ATexonicMaternalstopgainNM_001288749
NM_001288752
NM_001288750
NM_001288751
NM_030770
c.T764A
c.T896A
c.T971A
c.T1076A
c.T1103A
p.L255X
p.L299X
p.L324X
p.L359X
p.L368X
19.6-Ruzzo2019 G
TMPRSS5     150474chr11:
113570740-113570740
CGexonicDe novononsynonymous SNVNM_001288751c.G23Cp.R8T2.872-Satterstrom2020 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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