Variant Results

or

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

2-0244-003

chr11:
113590573-113590573

G

C

intergenic

De novo

-

Yuen2017 G

TMPRSS5

1-0255-003

chr11:
113586216-113586216

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMPRSS5

AU043804

chr11:
113580641-113580648

CAAAAAAA

CAAAAAAAA

intergenic

De novo

-

Yuen2017 G

TMPRSS5

iHART2071

chr11:
113560952-113560952

C

G

splicing

Paternal

splicing

13.46

-

Ruzzo2019 G

TMPRSS5

1-0466-003

chr11:
113570141-113570141

C

T

intronic

De novo

-

Yuen2017 G

TMPRSS5

SP0018069

chr11:
113560999-113560999

C

CG

exonic

De novo

frameshift insertion

NM_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

iHART2070

chr11:
113560952-113560952

C

G

splicing

Paternal

splicing

13.46

-

Ruzzo2019 G

TMPRSS5

1-0509-003

chr11:
113559801-113559801

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TMPRSS5

7-0008-003

chr11:
113557890-113557890

G

A

downstream

De novo

-

Yuen2017 G

TMPRSS5

iHART2072

chr11:
113560952-113560952

C

G

splicing

Paternal

splicing

13.46

-

Ruzzo2019 G

TMPRSS5

iHART2281

chr11:
113561056-113561056

A

T

exonic

Maternal

stopgain

NM_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

iHART2280

chr11:
113561056-113561056

A

T

exonic

Maternal

stopgain

NM_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

150474

chr11:
113570740-113570740

C

G

exonic

De novo

nonsynonymous SNV

NM_001288751

c.G23C

p.R8T

2.872

-

Satterstrom2020 E

Source Variant Information

, -

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 notes	View
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